Canonical Allele Identifier: CA367400579

Gene: GCK

Linked Data

• ClinVar Variation Id: 447417
• ClinVar RCV Id: RCV000518148 ; RCV002413397 ; RCV003325962
• dbSNP Id: rs1554335132
• MyVariant Identifiers: chr7:g.44187336G>A (hg19) ; chr7:g.44147737G>A (hg38)
• PubMed: PMID:19790256 ; PMID:22035297 ; PMID:24918535
• ERepo: CA367400579/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147737G>A , CM000669.2:g.44147737G>A	GRCh38
NC_000007.13:g.44187336G>A , CM000669.1:g.44187336G>A	GRCh37
NC_000007.12:g.44153861G>A	NCBI36
NG_008847.1:g.46687C>T
NG_008847.2:g.55434C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*774C>T	ENSP00000379142.4:n.*774C>T
ENST00000616242.5:c.776C>T	ENSP00000482149.2:p.Ala259Val
ENST00000345378.7:c.779C>T	ENSP00000223366.2:p.Ala260Val
ENST00000403799.8:c.776C>T MANE Select	ENSP00000384247.3:p.Ala259Val
ENST00000671824.1:c.776C>T	ENSP00000500264.1:p.Ala259Val
ENST00000673284.1:c.776C>T	ENSP00000499852.1:p.Ala259Val
ENST00000345378.6:c.779C>T	ENSP00000223366.2:p.Ala260Val
ENST00000395796.7:c.773C>T	ENSP00000379142.3:p.Ala258Val
ENST00000403799.7:c.776C>T	ENSP00000384247.3:p.Ala259Val
ENST00000437084.1:c.725C>T	ENSP00000402840.1:p.Ala242Val
ENST00000616242.4:c.773C>T	ENSP00000482149.1:p.Ala258Val
NM_000162.3:c.776C>T	NP_000153.1:p.Ala259Val
NM_033507.1:c.779C>T	NP_277042.1:p.Ala260Val
NM_033508.1:c.773C>T	NP_277043.1:p.Ala258Val
XR_927223.1:n.71G>A
NM_000162.4:c.776C>T	NP_000153.1:p.Ala259Val
NM_001354800.1:c.776C>T	NP_001341729.1:p.Ala259Val
NM_033507.2:c.779C>T	NP_277042.1:p.Ala260Val
NM_033508.2:c.773C>T	NP_277043.1:p.Ala258Val
XR_927223.2:n.71G>A
NM_000162.5:c.776C>T MANE Select	NP_000153.1:p.Ala259Val
NM_033507.3:c.779C>T	NP_277042.1:p.Ala260Val
NM_033508.3:c.773C>T	NP_277043.1:p.Ala258Val