Canonical Allele Identifier: CA367398281
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2734988
ClinVar RCV Id: RCV003555322 RCV004527459
MyVariant Identifiers: chr7:g.44185114A>G (hg19) chr7:g.44145515A>G (hg38)
ERepo: CA367398281/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145515A>G , CM000669.2:g.44145515A>G GRCh38
NC_000007.13:g.44185114A>G , CM000669.1:g.44185114A>G GRCh37
NC_000007.12:g.44151639A>G NCBI36
NG_008847.1:g.48909T>C
NG_008847.2:g.57656T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1233T>C ENSP00000379142.4:n.*1233T>C
ENST00000616242.5:c.*355T>C ENSP00000482149.2:n.*355T>C
ENST00000683378.1:n.461T>C
ENST00000336642.9:c.269T>C ENSP00000338009.5:p.Val90Ala
ENST00000345378.7:c.1238T>C ENSP00000223366.2:p.Val413Ala
ENST00000403799.8:c.1235T>C MANE Select ENSP00000384247.3:p.Val412Ala
ENST00000671824.1:c.1298T>C ENSP00000500264.1:p.Val433Ala
ENST00000672743.1:n.247T>C
ENST00000673284.1:c.1235T>C ENSP00000499852.1:p.Val412Ala
ENST00000336642.8:c.287T>C ENSP00000338009.4:p.Val96Ala
ENST00000345378.6:c.1238T>C ENSP00000223366.2:p.Val413Ala
ENST00000395796.7:c.1232T>C ENSP00000379142.3:p.Val411Ala
ENST00000403799.7:c.1235T>C ENSP00000384247.3:p.Val412Ala
ENST00000437084.1:c.1184T>C ENSP00000402840.1:p.Val395Ala
ENST00000459642.1:n.615T>C
ENST00000616242.4:c.1232T>C ENSP00000482149.1:p.Val411Ala
NM_000162.3:c.1235T>C NP_000153.1:p.Val412Ala
NM_033507.1:c.1238T>C NP_277042.1:p.Val413Ala
NM_033508.1:c.1232T>C NP_277043.1:p.Val411Ala
NM_000162.4:c.1235T>C NP_000153.1:p.Val412Ala
NM_001354800.1:c.1235T>C NP_001341729.1:p.Val412Ala
NM_001354801.1:c.224T>C NP_001341730.1:p.Val75Ala
NM_001354802.1:c.95T>C NP_001341731.1:p.Val32Ala
NM_001354803.1:c.269T>C NP_001341732.1:p.Val90Ala
NM_033507.2:c.1238T>C NP_277042.1:p.Val413Ala
NM_033508.2:c.1232T>C NP_277043.1:p.Val411Ala
XM_024446707.1:c.95T>C XP_024302475.1:p.Val32Ala
NM_000162.5:c.1235T>C MANE Select NP_000153.1:p.Val412Ala
NM_033507.3:c.1238T>C NP_277042.1:p.Val413Ala
NM_033508.3:c.1232T>C NP_277043.1:p.Val411Ala
NM_001354803.2:c.269T>C NP_001341732.1:p.Val90Ala
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