Canonical Allele Identifier: CA454607814

Gene: GCK

Linked Data

• gnomAD v4: 7-44146513-C-T
• MyVariant Identifiers: chr7:g.44186112C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146513C>T , CM000669.2:g.44146513C>T	GRCh38
NC_000007.13:g.44186112C>T , CM000669.1:g.44186112C>T	GRCh37
NC_000007.12:g.44152637C>T	NCBI36
NG_008847.1:g.47911G>A
NG_008847.2:g.56658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*967G>A	ENSP00000379142.4:n.*967G>A
ENST00000616242.5:c.*89G>A	ENSP00000482149.2:n.*89G>A
ENST00000683378.1:n.195G>A
ENST00000345378.7:c.972G>A	ENSP00000223366.2:p.Gln324=
ENST00000403799.8:c.969G>A MANE Select	ENSP00000384247.3:p.Gln323=
ENST00000671824.1:c.1032G>A	ENSP00000500264.1:p.Gln344=
ENST00000673284.1:c.969G>A	ENSP00000499852.1:p.Gln323=
ENST00000345378.6:c.972G>A	ENSP00000223366.2:p.Gln324=
ENST00000395796.7:c.966G>A	ENSP00000379142.3:p.Gln322=
ENST00000403799.7:c.969G>A	ENSP00000384247.3:p.Gln323=
ENST00000437084.1:c.918G>A	ENSP00000402840.1:p.Gln306=
ENST00000473353.1:n.267G>A
ENST00000616242.4:c.966G>A	ENSP00000482149.1:p.Gln322=
NM_000162.3:c.969G>A	NP_000153.1:p.Gln323=
NM_033507.1:c.972G>A	NP_277042.1:p.Gln324=
NM_033508.1:c.966G>A	NP_277043.1:p.Gln322=
NM_000162.4:c.969G>A	NP_000153.1:p.Gln323=
NM_001354800.1:c.969G>A	NP_001341729.1:p.Gln323=
NM_001354801.1:c.8+106G>A	NP_001341730.1:n.8+106G>A
NM_033507.2:c.972G>A	NP_277042.1:p.Gln324=
NM_033508.2:c.966G>A	NP_277043.1:p.Gln322=
NM_000162.5:c.969G>A MANE Select	NP_000153.1:p.Gln323=
NM_033507.3:c.972G>A	NP_277042.1:p.Gln324=
NM_033508.3:c.966G>A	NP_277043.1:p.Gln322=