Canonical Allele Identifier: CA454863135

Gene: GCK

Linked Data

• gnomAD v4: 7-44145529-G-A
• COSMIC: COSM1450900 ; COSM1450901 ; COSM4782889
• MyVariant Identifiers: chr7:g.44185128G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145529G>A , CM000669.2:g.44145529G>A	GRCh38
NC_000007.13:g.44185128G>A , CM000669.1:g.44185128G>A	GRCh37
NC_000007.12:g.44151653G>A	NCBI36
NG_008847.1:g.48895C>T
NG_008847.2:g.57642C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1219C>T	ENSP00000379142.4:n.*1219C>T
ENST00000616242.5:c.*341C>T	ENSP00000482149.2:n.*341C>T
ENST00000683378.1:n.447C>T
ENST00000336642.9:c.255C>T	ENSP00000338009.5:p.Gly85=
ENST00000345378.7:c.1224C>T	ENSP00000223366.2:p.Gly408=
ENST00000403799.8:c.1221C>T MANE Select	ENSP00000384247.3:p.Gly407=
ENST00000671824.1:c.1284C>T	ENSP00000500264.1:p.Gly428=
ENST00000672743.1:n.233C>T
ENST00000673284.1:c.1221C>T	ENSP00000499852.1:p.Gly407=
ENST00000336642.8:c.273C>T	ENSP00000338009.4:p.Gly91=
ENST00000345378.6:c.1224C>T	ENSP00000223366.2:p.Gly408=
ENST00000395796.7:c.1218C>T	ENSP00000379142.3:p.Gly406=
ENST00000403799.7:c.1221C>T	ENSP00000384247.3:p.Gly407=
ENST00000437084.1:c.1170C>T	ENSP00000402840.1:p.Gly390=
ENST00000459642.1:n.601C>T
ENST00000616242.4:c.1218C>T	ENSP00000482149.1:p.Gly406=
NM_000162.3:c.1221C>T	NP_000153.1:p.Gly407=
NM_033507.1:c.1224C>T	NP_277042.1:p.Gly408=
NM_033508.1:c.1218C>T	NP_277043.1:p.Gly406=
NM_000162.4:c.1221C>T	NP_000153.1:p.Gly407=
NM_001354800.1:c.1221C>T	NP_001341729.1:p.Gly407=
NM_001354801.1:c.210C>T	NP_001341730.1:p.Gly70=
NM_001354802.1:c.81C>T	NP_001341731.1:p.Gly27=
NM_001354803.1:c.255C>T	NP_001341732.1:p.Gly85=
NM_033507.2:c.1224C>T	NP_277042.1:p.Gly408=
NM_033508.2:c.1218C>T	NP_277043.1:p.Gly406=
XM_024446707.1:c.81C>T	XP_024302475.1:p.Gly27=
NM_000162.5:c.1221C>T MANE Select	NP_000153.1:p.Gly407=
NM_033507.3:c.1224C>T	NP_277042.1:p.Gly408=
NM_033508.3:c.1218C>T	NP_277043.1:p.Gly406=
NM_001354803.2:c.255C>T	NP_001341732.1:p.Gly85=