Canonical Allele Identifier: CA367401530
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 426122
dbSNP Id: rs1085307455
gnomAD v2: 7-44189576-G-A
gnomAD v4: 7-44149977-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149977G>A , CM000669.2:g.44149977G>A GRCh38
NC_000007.13:g.44189576G>A , CM000669.1:g.44189576G>A GRCh37
NC_000007.12:g.44156101G>A NCBI36
NG_008847.1:g.44447C>T
NG_008847.2:g.53194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*569C>T ENSP00000379142.4:n.*569C>T
ENST00000616242.5:c.571C>T ENSP00000482149.2:p.Arg191Trp
ENST00000682635.1:n.1057C>T
ENST00000345378.7:c.574C>T ENSP00000223366.2:p.Arg192Trp
ENST00000403799.8:c.571C>T MANE Select ENSP00000384247.3:p.Arg191Trp
ENST00000671824.1:c.571C>T ENSP00000500264.1:p.Arg191Trp
ENST00000673284.1:c.571C>T ENSP00000499852.1:p.Arg191Trp
ENST00000345378.6:c.574C>T ENSP00000223366.2:p.Arg192Trp
ENST00000395796.7:c.568C>T ENSP00000379142.3:p.Arg190Trp
ENST00000403799.7:c.571C>T ENSP00000384247.3:p.Arg191Trp
ENST00000437084.1:c.520C>T ENSP00000402840.1:p.Arg174Trp
ENST00000616242.4:c.568C>T ENSP00000482149.1:p.Arg190Trp
NM_000162.3:c.571C>T NP_000153.1:p.Arg191Trp
NM_033507.1:c.574C>T NP_277042.1:p.Arg192Trp
NM_033508.1:c.568C>T NP_277043.1:p.Arg190Trp
NM_000162.4:c.571C>T NP_000153.1:p.Arg191Trp
NM_001354800.1:c.571C>T NP_001341729.1:p.Arg191Trp
NM_033507.2:c.574C>T NP_277042.1:p.Arg192Trp
NM_033508.2:c.568C>T NP_277043.1:p.Arg190Trp
NM_000162.5:c.571C>T MANE Select NP_000153.1:p.Arg191Trp
NM_033507.3:c.574C>T NP_277042.1:p.Arg192Trp
NM_033508.3:c.568C>T NP_277043.1:p.Arg190Trp