Canonical Allele Identifier: CA367396839

Gene: GCK

Linked Data

• dbSNP Id: rs1157570386
• gnomAD v2: 7-44184764-A-G
• gnomAD v4: 7-44145165-A-G
• MyVariant Identifiers: chr7:g.44184764A>G (hg19) ; chr7:g.44145165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145165A>G , CM000669.2:g.44145165A>G	GRCh38
NC_000007.13:g.44184764A>G , CM000669.1:g.44184764A>G	GRCh37
NC_000007.12:g.44151289A>G	NCBI36
NG_008847.1:g.49259T>C
NG_008847.2:g.58006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1367T>C	ENSP00000379142.4:n.*1367T>C
ENST00000616242.5:c.*489T>C	ENSP00000482149.2:n.*489T>C
ENST00000683378.1:n.595T>C
ENST00000336642.9:c.403T>C	ENSP00000338009.5:p.Cys135Arg
ENST00000345378.7:c.1372T>C	ENSP00000223366.2:p.Cys458Arg
ENST00000403799.8:c.1369T>C MANE Select	ENSP00000384247.3:p.Cys457Arg
ENST00000671824.1:c.1432T>C	ENSP00000500264.1:p.Cys478Arg
ENST00000672743.1:n.381T>C
ENST00000673284.1:c.1369T>C	ENSP00000499852.1:p.Ter457Arg
ENST00000336642.8:c.421T>C	ENSP00000338009.4:p.Cys141Arg
ENST00000345378.6:c.1372T>C	ENSP00000223366.2:p.Cys458Arg
ENST00000395796.7:c.1366T>C	ENSP00000379142.3:p.Cys456Arg
ENST00000403799.7:c.1369T>C	ENSP00000384247.3:p.Cys457Arg
ENST00000437084.1:c.1318T>C	ENSP00000402840.1:p.Cys440Arg
ENST00000459642.1:n.749T>C
ENST00000616242.4:c.1366T>C	ENSP00000482149.1:p.Cys456Arg
NM_000162.3:c.1369T>C	NP_000153.1:p.Cys457Arg
NM_033507.1:c.1372T>C	NP_277042.1:p.Cys458Arg
NM_033508.1:c.1366T>C	NP_277043.1:p.Cys456Arg
NM_000162.4:c.1369T>C	NP_000153.1:p.Cys457Arg
NM_001354800.1:c.1369T>C	NP_001341729.1:p.Ter457Arg
NM_001354801.1:c.358T>C	NP_001341730.1:p.Cys120Arg
NM_001354802.1:c.229T>C	NP_001341731.1:p.Ter77Arg
NM_001354803.1:c.403T>C	NP_001341732.1:p.Cys135Arg
NM_033507.2:c.1372T>C	NP_277042.1:p.Cys458Arg
NM_033508.2:c.1366T>C	NP_277043.1:p.Cys456Arg
XM_024446707.1:c.229T>C	XP_024302475.1:p.Cys77Arg
NM_000162.5:c.1369T>C MANE Select	NP_000153.1:p.Cys457Arg
NM_033507.3:c.1372T>C	NP_277042.1:p.Cys458Arg
NM_033508.3:c.1366T>C	NP_277043.1:p.Cys456Arg
NM_001354803.2:c.403T>C	NP_001341732.1:p.Cys135Arg