Canonical Allele Identifier: CA454608745
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1423014790
gnomAD v3: 7-44147793-A-G
gnomAD v4: 7-44147793-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147793A>G , CM000669.2:g.44147793A>G GRCh38
NC_000007.13:g.44187392A>G , CM000669.1:g.44187392A>G GRCh37
NC_000007.12:g.44153917A>G NCBI36
NG_008847.1:g.46631T>C
NG_008847.2:g.55378T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*718T>C ENSP00000379142.4:n.*718T>C
ENST00000616242.5:c.720T>C ENSP00000482149.2:p.Asn240=
ENST00000345378.7:c.723T>C ENSP00000223366.2:p.Asn241=
ENST00000403799.8:c.720T>C MANE Select ENSP00000384247.3:p.Asn240=
ENST00000671824.1:c.720T>C ENSP00000500264.1:p.Asn240=
ENST00000673284.1:c.720T>C ENSP00000499852.1:p.Asn240=
ENST00000345378.6:c.723T>C ENSP00000223366.2:p.Asn241=
ENST00000395796.7:c.717T>C ENSP00000379142.3:p.Asn239=
ENST00000403799.7:c.720T>C ENSP00000384247.3:p.Asn240=
ENST00000437084.1:c.669T>C ENSP00000402840.1:p.Asn223=
ENST00000616242.4:c.717T>C ENSP00000482149.1:p.Asn239=
NM_000162.3:c.720T>C NP_000153.1:p.Asn240=
NM_033507.1:c.723T>C NP_277042.1:p.Asn241=
NM_033508.1:c.717T>C NP_277043.1:p.Asn239=
XR_927223.1:n.82+45A>G
NM_000162.4:c.720T>C NP_000153.1:p.Asn240=
NM_001354800.1:c.720T>C NP_001341729.1:p.Asn240=
NM_033507.2:c.723T>C NP_277042.1:p.Asn241=
NM_033508.2:c.717T>C NP_277043.1:p.Asn239=
XR_927223.2:n.82+45A>G
NM_000162.5:c.720T>C MANE Select NP_000153.1:p.Asn240=
NM_033507.3:c.723T>C NP_277042.1:p.Asn241=
NM_033508.3:c.717T>C NP_277043.1:p.Asn239=