Canonical Allele Identifier: CA367401149

Gene: GCK

Linked Data

• ClinVar Variation Id: 1464253
• ClinVar RCV Id: RCV001975403 ; RCV002052003
• dbSNP Id: rs2128821476
• MyVariant Identifiers: chr7:g.44189367A>G (hg19) ; chr7:g.44149768A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149768A>G , CM000669.2:g.44149768A>G	GRCh38
NC_000007.13:g.44189367A>G , CM000669.1:g.44189367A>G	GRCh37
NC_000007.12:g.44155892A>G	NCBI36
NG_008847.1:g.44656T>C
NG_008847.2:g.53403T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*669T>C	ENSP00000379142.4:n.*669T>C
ENST00000616242.5:c.671T>C	ENSP00000482149.2:p.Met224Thr
ENST00000682635.1:n.1157T>C
ENST00000345378.7:c.674T>C	ENSP00000223366.2:p.Met225Thr
ENST00000403799.8:c.671T>C MANE Select	ENSP00000384247.3:p.Met224Thr
ENST00000671824.1:c.671T>C	ENSP00000500264.1:p.Met224Thr
ENST00000673284.1:c.671T>C	ENSP00000499852.1:p.Met224Thr
ENST00000345378.6:c.674T>C	ENSP00000223366.2:p.Met225Thr
ENST00000395796.7:c.668T>C	ENSP00000379142.3:p.Met223Thr
ENST00000403799.7:c.671T>C	ENSP00000384247.3:p.Met224Thr
ENST00000437084.1:c.620T>C	ENSP00000402840.1:p.Met207Thr
ENST00000616242.4:c.668T>C	ENSP00000482149.1:p.Met223Thr
NM_000162.3:c.671T>C	NP_000153.1:p.Met224Thr
NM_033507.1:c.674T>C	NP_277042.1:p.Met225Thr
NM_033508.1:c.668T>C	NP_277043.1:p.Met223Thr
XR_927223.1:n.283A>G
NM_000162.4:c.671T>C	NP_000153.1:p.Met224Thr
NM_001354800.1:c.671T>C	NP_001341729.1:p.Met224Thr
NM_033507.2:c.674T>C	NP_277042.1:p.Met225Thr
NM_033508.2:c.668T>C	NP_277043.1:p.Met223Thr
XR_927223.2:n.283A>G
NM_000162.5:c.671T>C MANE Select	NP_000153.1:p.Met224Thr
NM_033507.3:c.674T>C	NP_277042.1:p.Met225Thr
NM_033508.3:c.668T>C	NP_277043.1:p.Met223Thr