Canonical Allele Identifier: CA4239562
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 910410
dbSNP Id: rs772754004
gnomAD v2: 7-44189363-G-A
gnomAD v3: 7-44149764-G-A
gnomAD v4: 7-44149764-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149764G>A , CM000669.2:g.44149764G>A GRCh38
NC_000007.13:g.44189363G>A , CM000669.1:g.44189363G>A GRCh37
NC_000007.12:g.44155888G>A NCBI36
NG_008847.1:g.44660C>T
NG_008847.2:g.53407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*673C>T ENSP00000379142.4:n.*673C>T
ENST00000616242.5:c.675C>T ENSP00000482149.2:p.Ile225=
ENST00000682635.1:n.1161C>T
ENST00000345378.7:c.678C>T ENSP00000223366.2:p.Ile226=
ENST00000403799.8:c.675C>T MANE Select ENSP00000384247.3:p.Ile225=
ENST00000671824.1:c.675C>T ENSP00000500264.1:p.Ile225=
ENST00000673284.1:c.675C>T ENSP00000499852.1:p.Ile225=
ENST00000345378.6:c.678C>T ENSP00000223366.2:p.Ile226=
ENST00000395796.7:c.672C>T ENSP00000379142.3:p.Ile224=
ENST00000403799.7:c.675C>T ENSP00000384247.3:p.Ile225=
ENST00000437084.1:c.624C>T ENSP00000402840.1:p.Ile208=
ENST00000616242.4:c.672C>T ENSP00000482149.1:p.Ile224=
NM_000162.3:c.675C>T NP_000153.1:p.Ile225=
NM_033507.1:c.678C>T NP_277042.1:p.Ile226=
NM_033508.1:c.672C>T NP_277043.1:p.Ile224=
XR_927223.1:n.279G>A
NM_000162.4:c.675C>T NP_000153.1:p.Ile225=
NM_001354800.1:c.675C>T NP_001341729.1:p.Ile225=
NM_033507.2:c.678C>T NP_277042.1:p.Ile226=
NM_033508.2:c.672C>T NP_277043.1:p.Ile224=
XR_927223.2:n.279G>A
NM_000162.5:c.675C>T MANE Select NP_000153.1:p.Ile225=
NM_033507.3:c.678C>T NP_277042.1:p.Ile226=
NM_033508.3:c.672C>T NP_277043.1:p.Ile224=