Canonical Allele Identifier: CA367399799

Gene: GCK

Linked Data

• gnomAD v4: 7-44146496-G-A
• MyVariant Identifiers: chr7:g.44186095G>A (hg19) ; chr7:g.44146496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146496G>A , CM000669.2:g.44146496G>A	GRCh38
NC_000007.13:g.44186095G>A , CM000669.1:g.44186095G>A	GRCh37
NC_000007.12:g.44152620G>A	NCBI36
NG_008847.1:g.47928C>T
NG_008847.2:g.56675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*984C>T	ENSP00000379142.4:n.*984C>T
ENST00000616242.5:c.*106C>T	ENSP00000482149.2:n.*106C>T
ENST00000683378.1:n.212C>T
ENST00000345378.7:c.989C>T	ENSP00000223366.2:p.Ala330Val
ENST00000403799.8:c.986C>T MANE Select	ENSP00000384247.3:p.Ala329Val
ENST00000671824.1:c.1049C>T	ENSP00000500264.1:p.Ala350Val
ENST00000673284.1:c.986C>T	ENSP00000499852.1:p.Ala329Val
ENST00000345378.6:c.989C>T	ENSP00000223366.2:p.Ala330Val
ENST00000395796.7:c.983C>T	ENSP00000379142.3:p.Ala328Val
ENST00000403799.7:c.986C>T	ENSP00000384247.3:p.Ala329Val
ENST00000437084.1:c.935C>T	ENSP00000402840.1:p.Ala312Val
ENST00000473353.1:n.284C>T
ENST00000616242.4:c.983C>T	ENSP00000482149.1:p.Ala328Val
NM_000162.3:c.986C>T	NP_000153.1:p.Ala329Val
NM_033507.1:c.989C>T	NP_277042.1:p.Ala330Val
NM_033508.1:c.983C>T	NP_277043.1:p.Ala328Val
NM_000162.4:c.986C>T	NP_000153.1:p.Ala329Val
NM_001354800.1:c.986C>T	NP_001341729.1:p.Ala329Val
NM_001354801.1:c.8+123C>T	NP_001341730.1:n.8+123C>T
NM_033507.2:c.989C>T	NP_277042.1:p.Ala330Val
NM_033508.2:c.983C>T	NP_277043.1:p.Ala328Val
NM_000162.5:c.986C>T MANE Select	NP_000153.1:p.Ala329Val
NM_033507.3:c.989C>T	NP_277042.1:p.Ala330Val
NM_033508.3:c.983C>T	NP_277043.1:p.Ala328Val