Canonical Allele Identifier: CA367401673

Gene: GCK

Linked Data

• ClinVar Variation Id: 450644
• ClinVar RCV Id: RCV000524090 ; RCV003403237
• dbSNP Id: rs193922304
• gnomAD v4: 7-44150021-G-T
• MyVariant Identifiers: chr7:g.44189620G>T (hg19) ; chr7:g.44150021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150021G>T , CM000669.2:g.44150021G>T	GRCh38
NC_000007.13:g.44189620G>T , CM000669.1:g.44189620G>T	GRCh37
NC_000007.12:g.44156145G>T	NCBI36
NG_008847.1:g.44403C>A
NG_008847.2:g.53150C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*525C>A	ENSP00000379142.4:n.*525C>A
ENST00000616242.5:c.527C>A	ENSP00000482149.2:p.Ala176Glu
ENST00000682635.1:n.1013C>A
ENST00000345378.7:c.530C>A	ENSP00000223366.2:p.Ala177Glu
ENST00000403799.8:c.527C>A MANE Select	ENSP00000384247.3:p.Ala176Glu
ENST00000671824.1:c.527C>A	ENSP00000500264.1:p.Ala176Glu
ENST00000673284.1:c.527C>A	ENSP00000499852.1:p.Ala176Glu
ENST00000345378.6:c.530C>A	ENSP00000223366.2:p.Ala177Glu
ENST00000395796.7:c.524C>A	ENSP00000379142.3:p.Ala175Glu
ENST00000403799.7:c.527C>A	ENSP00000384247.3:p.Ala176Glu
ENST00000437084.1:c.476C>A	ENSP00000402840.1:p.Ala159Glu
ENST00000616242.4:c.524C>A	ENSP00000482149.1:p.Ala175Glu
NM_000162.3:c.527C>A	NP_000153.1:p.Ala176Glu
NM_033507.1:c.530C>A	NP_277042.1:p.Ala177Glu
NM_033508.1:c.524C>A	NP_277043.1:p.Ala175Glu
NM_000162.4:c.527C>A	NP_000153.1:p.Ala176Glu
NM_001354800.1:c.527C>A	NP_001341729.1:p.Ala176Glu
NM_033507.2:c.530C>A	NP_277042.1:p.Ala177Glu
NM_033508.2:c.524C>A	NP_277043.1:p.Ala175Glu
NM_000162.5:c.527C>A MANE Select	NP_000153.1:p.Ala176Glu
NM_033507.3:c.530C>A	NP_277042.1:p.Ala177Glu
NM_033508.3:c.524C>A	NP_277043.1:p.Ala175Glu