Canonical Allele Identifier: CA367400422

Gene: GCK

Linked Data

• dbSNP Id: rs776328308
• gnomAD v3: 7-44147660-C-A
• gnomAD v4: 7-44147660-C-A
• MyVariant Identifiers: chr7:g.44187259C>A (hg19) ; chr7:g.44147660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147660C>A , CM000669.2:g.44147660C>A	GRCh38
NC_000007.13:g.44187259C>A , CM000669.1:g.44187259C>A	GRCh37
NC_000007.12:g.44153784C>A	NCBI36
NG_008847.1:g.46764G>T
NG_008847.2:g.55511G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*851G>T	ENSP00000379142.4:n.*851G>T
ENST00000616242.5:c.853G>T	ENSP00000482149.2:p.Gly285Cys
ENST00000345378.7:c.856G>T	ENSP00000223366.2:p.Gly286Cys
ENST00000403799.8:c.853G>T MANE Select	ENSP00000384247.3:p.Gly285Cys
ENST00000671824.1:c.853G>T	ENSP00000500264.1:p.Gly285Cys
ENST00000673284.1:c.853G>T	ENSP00000499852.1:p.Gly285Cys
ENST00000345378.6:c.856G>T	ENSP00000223366.2:p.Gly286Cys
ENST00000395796.7:c.850G>T	ENSP00000379142.3:p.Gly284Cys
ENST00000403799.7:c.853G>T	ENSP00000384247.3:p.Gly285Cys
ENST00000437084.1:c.802G>T	ENSP00000402840.1:p.Gly268Cys
ENST00000616242.4:c.850G>T	ENSP00000482149.1:p.Gly284Cys
NM_000162.3:c.853G>T	NP_000153.1:p.Gly285Cys
NM_033507.1:c.856G>T	NP_277042.1:p.Gly286Cys
NM_033508.1:c.850G>T	NP_277043.1:p.Gly284Cys
NM_000162.4:c.853G>T	NP_000153.1:p.Gly285Cys
NM_001354800.1:c.853G>T	NP_001341729.1:p.Gly285Cys
NM_033507.2:c.856G>T	NP_277042.1:p.Gly286Cys
NM_033508.2:c.850G>T	NP_277043.1:p.Gly284Cys
NM_000162.5:c.853G>T MANE Select	NP_000153.1:p.Gly285Cys
NM_033507.3:c.856G>T	NP_277042.1:p.Gly286Cys
NM_033508.3:c.850G>T	NP_277043.1:p.Gly284Cys