Canonical Allele Identifier: CA4239433

Gene: GCK

Linked Data

• dbSNP Id: rs754337045
• ExAC: 7:44185244 G / A
• gnomAD v2: 7-44185244-G-A
• COSMIC: COSM4686619 ; COSM4686620 ; COSM4686621
• MyVariant Identifiers: chr7:g.44185244G>A (hg19) ; chr7:g.44145645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145645G>A , CM000669.2:g.44145645G>A	GRCh38
NC_000007.13:g.44185244G>A , CM000669.1:g.44185244G>A	GRCh37
NC_000007.12:g.44151769G>A	NCBI36
NG_008847.1:g.48779C>T
NG_008847.2:g.57526C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1103C>T	ENSP00000379142.4:n.*1103C>T
ENST00000616242.5:c.*225C>T	ENSP00000482149.2:n.*225C>T
ENST00000683378.1:n.331C>T
ENST00000336642.9:c.139C>T	ENSP00000338009.5:p.Arg47Cys
ENST00000345378.7:c.1108C>T	ENSP00000223366.2:p.Arg370Cys
ENST00000403799.8:c.1105C>T MANE Select	ENSP00000384247.3:p.Arg369Cys
ENST00000671824.1:c.1168C>T	ENSP00000500264.1:p.Arg390Cys
ENST00000672743.1:n.117C>T
ENST00000673284.1:c.1105C>T	ENSP00000499852.1:p.Arg369Cys
ENST00000336642.8:c.157C>T	ENSP00000338009.4:p.Arg53Cys
ENST00000345378.6:c.1108C>T	ENSP00000223366.2:p.Arg370Cys
ENST00000395796.7:c.1102C>T	ENSP00000379142.3:p.Arg368Cys
ENST00000403799.7:c.1105C>T	ENSP00000384247.3:p.Arg369Cys
ENST00000437084.1:c.1054C>T	ENSP00000402840.1:p.Arg352Cys
ENST00000459642.1:n.485C>T
ENST00000473353.1:n.403C>T
ENST00000616242.4:c.1102C>T	ENSP00000482149.1:p.Arg368Cys
NM_000162.3:c.1105C>T	NP_000153.1:p.Arg369Cys
NM_033507.1:c.1108C>T	NP_277042.1:p.Arg370Cys
NM_033508.1:c.1102C>T	NP_277043.1:p.Arg368Cys
NM_000162.4:c.1105C>T	NP_000153.1:p.Arg369Cys
NM_001354800.1:c.1105C>T	NP_001341729.1:p.Arg369Cys
NM_001354801.1:c.94C>T	NP_001341730.1:p.Arg32Cys
NM_001354802.1:c.-36C>T	NP_001341731.1:n.-36C>T
NM_001354803.1:c.139C>T	NP_001341732.1:p.Arg47Cys
NM_033507.2:c.1108C>T	NP_277042.1:p.Arg370Cys
NM_033508.2:c.1102C>T	NP_277043.1:p.Arg368Cys
XM_024446707.1:c.-36C>T	XP_024302475.1:n.-36C>T
NM_000162.5:c.1105C>T MANE Select	NP_000153.1:p.Arg369Cys
NM_033507.3:c.1108C>T	NP_277042.1:p.Arg370Cys
NM_033508.3:c.1102C>T	NP_277043.1:p.Arg368Cys
NM_001354803.2:c.139C>T	NP_001341732.1:p.Arg47Cys