Canonical Allele Identifier: CA367398665
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 435300
ClinVar RCV Id: RCV000499682
dbSNP Id: rs1350717554

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145585C>G , CM000669.2:g.44145585C>G GRCh38
NC_000007.13:g.44185184C>G , CM000669.1:g.44185184C>G GRCh37
NC_000007.12:g.44151709C>G NCBI36
NG_008847.1:g.48839G>C
NG_008847.2:g.57586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1163G>C ENSP00000379142.4:n.*1163G>C
ENST00000616242.5:c.*285G>C ENSP00000482149.2:n.*285G>C
ENST00000683378.1:n.391G>C
ENST00000336642.9:c.199G>C ENSP00000338009.5:p.Val67Leu
ENST00000345378.7:c.1168G>C ENSP00000223366.2:p.Val390Leu
ENST00000403799.8:c.1165G>C MANE Select ENSP00000384247.3:p.Val389Leu
ENST00000671824.1:c.1228G>C ENSP00000500264.1:p.Val410Leu
ENST00000672743.1:n.177G>C
ENST00000673284.1:c.1165G>C ENSP00000499852.1:p.Val389Leu
ENST00000336642.8:c.217G>C ENSP00000338009.4:p.Val73Leu
ENST00000345378.6:c.1168G>C ENSP00000223366.2:p.Val390Leu
ENST00000395796.7:c.1162G>C ENSP00000379142.3:p.Val388Leu
ENST00000403799.7:c.1165G>C ENSP00000384247.3:p.Val389Leu
ENST00000437084.1:c.1114G>C ENSP00000402840.1:p.Val372Leu
ENST00000459642.1:n.545G>C
ENST00000616242.4:c.1162G>C ENSP00000482149.1:p.Val388Leu
NM_000162.3:c.1165G>C NP_000153.1:p.Val389Leu
NM_033507.1:c.1168G>C NP_277042.1:p.Val390Leu
NM_033508.1:c.1162G>C NP_277043.1:p.Val388Leu
NM_000162.4:c.1165G>C NP_000153.1:p.Val389Leu
NM_001354800.1:c.1165G>C NP_001341729.1:p.Val389Leu
NM_001354801.1:c.154G>C NP_001341730.1:p.Val52Leu
NM_001354802.1:c.25G>C NP_001341731.1:p.Val9Leu
NM_001354803.1:c.199G>C NP_001341732.1:p.Val67Leu
NM_033507.2:c.1168G>C NP_277042.1:p.Val390Leu
NM_033508.2:c.1162G>C NP_277043.1:p.Val388Leu
XM_024446707.1:c.25G>C XP_024302475.1:p.Val9Leu
NM_000162.5:c.1165G>C MANE Select NP_000153.1:p.Val389Leu
NM_033507.3:c.1168G>C NP_277042.1:p.Val390Leu
NM_033508.3:c.1162G>C NP_277043.1:p.Val388Leu
NM_001354803.2:c.199G>C NP_001341732.1:p.Val67Leu