Canonical Allele Identifier: CA454863141

Gene: GCK

Linked Data

• dbSNP Id: rs1349879007
• gnomAD v4: 7-44145532-C-A
• MyVariant Identifiers: chr7:g.44185131C>A (hg19) ; chr7:g.44145532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145532C>A , CM000669.2:g.44145532C>A	GRCh38
NC_000007.13:g.44185131C>A , CM000669.1:g.44185131C>A	GRCh37
NC_000007.12:g.44151656C>A	NCBI36
NG_008847.1:g.48892G>T
NG_008847.2:g.57639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1216G>T	ENSP00000379142.4:n.*1216G>T
ENST00000616242.5:c.*338G>T	ENSP00000482149.2:n.*338G>T
ENST00000683378.1:n.444G>T
ENST00000336642.9:c.252G>T	ENSP00000338009.5:p.Val84=
ENST00000345378.7:c.1221G>T	ENSP00000223366.2:p.Val407=
ENST00000403799.8:c.1218G>T MANE Select	ENSP00000384247.3:p.Val406=
ENST00000671824.1:c.1281G>T	ENSP00000500264.1:p.Val427=
ENST00000672743.1:n.230G>T
ENST00000673284.1:c.1218G>T	ENSP00000499852.1:p.Val406=
ENST00000336642.8:c.270G>T	ENSP00000338009.4:p.Val90=
ENST00000345378.6:c.1221G>T	ENSP00000223366.2:p.Val407=
ENST00000395796.7:c.1215G>T	ENSP00000379142.3:p.Val405=
ENST00000403799.7:c.1218G>T	ENSP00000384247.3:p.Val406=
ENST00000437084.1:c.1167G>T	ENSP00000402840.1:p.Val389=
ENST00000459642.1:n.598G>T
ENST00000616242.4:c.1215G>T	ENSP00000482149.1:p.Val405=
NM_000162.3:c.1218G>T	NP_000153.1:p.Val406=
NM_033507.1:c.1221G>T	NP_277042.1:p.Val407=
NM_033508.1:c.1215G>T	NP_277043.1:p.Val405=
NM_000162.4:c.1218G>T	NP_000153.1:p.Val406=
NM_001354800.1:c.1218G>T	NP_001341729.1:p.Val406=
NM_001354801.1:c.207G>T	NP_001341730.1:p.Val69=
NM_001354802.1:c.78G>T	NP_001341731.1:p.Val26=
NM_001354803.1:c.252G>T	NP_001341732.1:p.Val84=
NM_033507.2:c.1221G>T	NP_277042.1:p.Val407=
NM_033508.2:c.1215G>T	NP_277043.1:p.Val405=
XM_024446707.1:c.78G>T	XP_024302475.1:p.Val26=
NM_000162.5:c.1218G>T MANE Select	NP_000153.1:p.Val406=
NM_033507.3:c.1221G>T	NP_277042.1:p.Val407=
NM_033508.3:c.1215G>T	NP_277043.1:p.Val405=
NM_001354803.2:c.252G>T	NP_001341732.1:p.Val84=