Canonical Allele Identifier: CA367399800

Gene: GCK

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*984C>G	ENSP00000379142.4:n.*984C>G
ENST00000616242.5:c.*106C>G	ENSP00000482149.2:n.*106C>G
ENST00000683378.1:n.212C>G
ENST00000345378.7:c.989C>G	ENSP00000223366.2:p.Ala330Gly
ENST00000403799.8:c.986C>G MANE Select	ENSP00000384247.3:p.Ala329Gly
ENST00000671824.1:c.1049C>G	ENSP00000500264.1:p.Ala350Gly
ENST00000673284.1:c.986C>G	ENSP00000499852.1:p.Ala329Gly
ENST00000345378.6:c.989C>G	ENSP00000223366.2:p.Ala330Gly
ENST00000395796.7:c.983C>G	ENSP00000379142.3:p.Ala328Gly
ENST00000403799.7:c.986C>G	ENSP00000384247.3:p.Ala329Gly
ENST00000437084.1:c.935C>G	ENSP00000402840.1:p.Ala312Gly
ENST00000473353.1:n.284C>G
ENST00000616242.4:c.983C>G	ENSP00000482149.1:p.Ala328Gly
NM_000162.3:c.986C>G	NP_000153.1:p.Ala329Gly
NM_033507.1:c.989C>G	NP_277042.1:p.Ala330Gly
NM_033508.1:c.983C>G	NP_277043.1:p.Ala328Gly
NM_000162.4:c.986C>G	NP_000153.1:p.Ala329Gly
NM_001354800.1:c.986C>G	NP_001341729.1:p.Ala329Gly
NM_001354801.1:c.8+123C>G	NP_001341730.1:n.8+123C>G
NM_033507.2:c.989C>G	NP_277042.1:p.Ala330Gly
NM_033508.2:c.983C>G	NP_277043.1:p.Ala328Gly
NM_000162.5:c.986C>G MANE Select	NP_000153.1:p.Ala329Gly
NM_033507.3:c.989C>G	NP_277042.1:p.Ala330Gly
NM_033508.3:c.983C>G	NP_277043.1:p.Ala328Gly