Canonical Allele Identifier: CA367400487

Gene: GCK

Linked Data

• ClinVar Variation Id: 447421
• ClinVar RCV Id: RCV000516582 ; RCV002463708
• dbSNP Id: rs1554335109
• MyVariant Identifiers: chr7:g.44187292C>G (hg19) ; chr7:g.44147693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147693C>G , CM000669.2:g.44147693C>G	GRCh38
NC_000007.13:g.44187292C>G , CM000669.1:g.44187292C>G	GRCh37
NC_000007.12:g.44153817C>G	NCBI36
NG_008847.1:g.46731G>C
NG_008847.2:g.55478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*818G>C	ENSP00000379142.4:n.*818G>C
ENST00000616242.5:c.820G>C	ENSP00000482149.2:p.Asp274His
ENST00000345378.7:c.823G>C	ENSP00000223366.2:p.Asp275His
ENST00000403799.8:c.820G>C MANE Select	ENSP00000384247.3:p.Asp274His
ENST00000671824.1:c.820G>C	ENSP00000500264.1:p.Asp274His
ENST00000673284.1:c.820G>C	ENSP00000499852.1:p.Asp274His
ENST00000345378.6:c.823G>C	ENSP00000223366.2:p.Asp275His
ENST00000395796.7:c.817G>C	ENSP00000379142.3:p.Asp273His
ENST00000403799.7:c.820G>C	ENSP00000384247.3:p.Asp274His
ENST00000437084.1:c.769G>C	ENSP00000402840.1:p.Asp257His
ENST00000616242.4:c.817G>C	ENSP00000482149.1:p.Asp273His
NM_000162.3:c.820G>C	NP_000153.1:p.Asp274His
NM_033507.1:c.823G>C	NP_277042.1:p.Asp275His
NM_033508.1:c.817G>C	NP_277043.1:p.Asp273His
XR_927223.1:n.27C>G
NM_000162.4:c.820G>C	NP_000153.1:p.Asp274His
NM_001354800.1:c.820G>C	NP_001341729.1:p.Asp274His
NM_033507.2:c.823G>C	NP_277042.1:p.Asp275His
NM_033508.2:c.817G>C	NP_277043.1:p.Asp273His
XR_927223.2:n.27C>G
NM_000162.5:c.820G>C MANE Select	NP_000153.1:p.Asp274His
NM_033507.3:c.823G>C	NP_277042.1:p.Asp275His
NM_033508.3:c.817G>C	NP_277043.1:p.Asp273His