Canonical Allele Identifier: CA573797709

Gene: GCK

Linked Data

• dbSNP Id: rs1373486333
• gnomAD v2: 7-44189343-T-G
• gnomAD v4: 7-44149744-T-G
• MyVariant Identifiers: chr7:g.44189343T>G (hg19) ; chr7:g.44149744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149744T>G , CM000669.2:g.44149744T>G	GRCh38
NC_000007.13:g.44189343T>G , CM000669.1:g.44189343T>G	GRCh37
NC_000007.12:g.44155868T>G	NCBI36
NG_008847.1:g.44680A>C
NG_008847.2:g.53427A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*677+16A>C	ENSP00000379142.4:n.*677+16A>C
ENST00000616242.5:c.679+16A>C	ENSP00000482149.2:n.679+16A>C
ENST00000682635.1:n.1181A>C
ENST00000345378.7:c.682+16A>C	ENSP00000223366.2:n.682+16A>C
ENST00000403799.8:c.679+16A>C MANE Select	ENSP00000384247.3:n.679+16A>C
ENST00000671824.1:c.679+16A>C	ENSP00000500264.1:n.679+16A>C
ENST00000673284.1:c.679+16A>C	ENSP00000499852.1:n.679+16A>C
ENST00000345378.6:c.682+16A>C	ENSP00000223366.2:n.682+16A>C
ENST00000395796.7:c.676+16A>C	ENSP00000379142.3:n.676+16A>C
ENST00000403799.7:c.679+16A>C	ENSP00000384247.3:n.679+16A>C
ENST00000437084.1:c.628+16A>C	ENSP00000402840.1:n.628+16A>C
ENST00000616242.4:c.676+16A>C	ENSP00000482149.1:n.676+16A>C
NM_000162.3:c.679+16A>C	NP_000153.1:n.679+16A>C
NM_033507.1:c.682+16A>C	NP_277042.1:n.682+16A>C
NM_033508.1:c.676+16A>C	NP_277043.1:n.676+16A>C
XR_927223.1:n.259T>G
NM_000162.4:c.679+16A>C	NP_000153.1:n.679+16A>C
NM_001354800.1:c.679+16A>C	NP_001341729.1:n.679+16A>C
NM_033507.2:c.682+16A>C	NP_277042.1:n.682+16A>C
NM_033508.2:c.676+16A>C	NP_277043.1:n.676+16A>C
XR_927223.2:n.259T>G
NM_000162.5:c.679+16A>C MANE Select	NP_000153.1:n.679+16A>C
NM_033507.3:c.682+16A>C	NP_277042.1:n.682+16A>C
NM_033508.3:c.676+16A>C	NP_277043.1:n.676+16A>C