Canonical Allele Identifier: CA367399765

Gene: GCK

Linked Data

• ClinVar Variation Id: 450453
• ClinVar RCV Id: RCV000520175
• dbSNP Id: rs770231054
• MyVariant Identifiers: chr7:g.44186086G>C (hg19) ; chr7:g.44146487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146487G>C , CM000669.2:g.44146487G>C	GRCh38
NC_000007.13:g.44186086G>C , CM000669.1:g.44186086G>C	GRCh37
NC_000007.12:g.44152611G>C	NCBI36
NG_008847.1:g.47937C>G
NG_008847.2:g.56684C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*993C>G	ENSP00000379142.4:n.*993C>G
ENST00000616242.5:c.*115C>G	ENSP00000482149.2:n.*115C>G
ENST00000683378.1:n.221C>G
ENST00000345378.7:c.998C>G	ENSP00000223366.2:p.Thr333Arg
ENST00000403799.8:c.995C>G MANE Select	ENSP00000384247.3:p.Thr332Arg
ENST00000671824.1:c.1058C>G	ENSP00000500264.1:p.Thr353Arg
ENST00000673284.1:c.995C>G	ENSP00000499852.1:p.Thr332Arg
ENST00000345378.6:c.998C>G	ENSP00000223366.2:p.Thr333Arg
ENST00000395796.7:c.992C>G	ENSP00000379142.3:p.Thr331Arg
ENST00000403799.7:c.995C>G	ENSP00000384247.3:p.Thr332Arg
ENST00000437084.1:c.944C>G	ENSP00000402840.1:p.Thr315Arg
ENST00000473353.1:n.293C>G
ENST00000616242.4:c.992C>G	ENSP00000482149.1:p.Thr331Arg
NM_000162.3:c.995C>G	NP_000153.1:p.Thr332Arg
NM_033507.1:c.998C>G	NP_277042.1:p.Thr333Arg
NM_033508.1:c.992C>G	NP_277043.1:p.Thr331Arg
NM_000162.4:c.995C>G	NP_000153.1:p.Thr332Arg
NM_001354800.1:c.995C>G	NP_001341729.1:p.Thr332Arg
NM_001354801.1:c.8+132C>G	NP_001341730.1:n.8+132C>G
NM_033507.2:c.998C>G	NP_277042.1:p.Thr333Arg
NM_033508.2:c.992C>G	NP_277043.1:p.Thr331Arg
NM_000162.5:c.995C>G MANE Select	NP_000153.1:p.Thr332Arg
NM_033507.3:c.998C>G	NP_277042.1:p.Thr333Arg
NM_033508.3:c.992C>G	NP_277043.1:p.Thr331Arg