Canonical Allele Identifier: CA367400619
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147756-C-G
MyVariant Identifiers: chr7:g.44187355C>G (hg19) chr7:g.44147756C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147756C>G , CM000669.2:g.44147756C>G GRCh38
NC_000007.13:g.44187355C>G , CM000669.1:g.44187355C>G GRCh37
NC_000007.12:g.44153880C>G NCBI36
NG_008847.1:g.46668G>C
NG_008847.2:g.55415G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*755G>C ENSP00000379142.4:n.*755G>C
ENST00000616242.5:c.757G>C ENSP00000482149.2:p.Val253Leu
ENST00000345378.7:c.760G>C ENSP00000223366.2:p.Val254Leu
ENST00000403799.8:c.757G>C MANE Select ENSP00000384247.3:p.Val253Leu
ENST00000671824.1:c.757G>C ENSP00000500264.1:p.Val253Leu
ENST00000673284.1:c.757G>C ENSP00000499852.1:p.Val253Leu
ENST00000345378.6:c.760G>C ENSP00000223366.2:p.Val254Leu
ENST00000395796.7:c.754G>C ENSP00000379142.3:p.Val252Leu
ENST00000403799.7:c.757G>C ENSP00000384247.3:p.Val253Leu
ENST00000437084.1:c.706G>C ENSP00000402840.1:p.Val236Leu
ENST00000616242.4:c.754G>C ENSP00000482149.1:p.Val252Leu
NM_000162.3:c.757G>C NP_000153.1:p.Val253Leu
NM_033507.1:c.760G>C NP_277042.1:p.Val254Leu
NM_033508.1:c.754G>C NP_277043.1:p.Val252Leu
XR_927223.1:n.82+8C>G
NM_000162.4:c.757G>C NP_000153.1:p.Val253Leu
NM_001354800.1:c.757G>C NP_001341729.1:p.Val253Leu
NM_033507.2:c.760G>C NP_277042.1:p.Val254Leu
NM_033508.2:c.754G>C NP_277043.1:p.Val252Leu
XR_927223.2:n.82+8C>G
NM_000162.5:c.757G>C MANE Select NP_000153.1:p.Val253Leu
NM_033507.3:c.760G>C NP_277042.1:p.Val254Leu
NM_033508.3:c.754G>C NP_277043.1:p.Val252Leu
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