Canonical Allele Identifier: CA213784
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36218
dbSNP Id: rs193922297
gnomAD v4: 7-44150990-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150990A>G , CM000669.2:g.44150990A>G GRCh38
NC_000007.13:g.44190589A>G , CM000669.1:g.44190589A>G GRCh37
NC_000007.12:g.44157114A>G NCBI36
NG_008847.1:g.43434T>C
NG_008847.2:g.52181T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*447T>C ENSP00000379142.4:n.*447T>C
ENST00000616242.5:c.449T>C ENSP00000482149.2:p.Phe150Ser
ENST00000682635.1:n.935T>C
ENST00000345378.7:c.452T>C ENSP00000223366.2:p.Phe151Ser
ENST00000403799.8:c.449T>C MANE Select ENSP00000384247.3:p.Phe150Ser
ENST00000671824.1:c.449T>C ENSP00000500264.1:p.Phe150Ser
ENST00000673284.1:c.449T>C ENSP00000499852.1:p.Phe150Ser
ENST00000345378.6:c.452T>C ENSP00000223366.2:p.Phe151Ser
ENST00000395796.7:c.446T>C ENSP00000379142.3:p.Phe149Ser
ENST00000403799.7:c.449T>C ENSP00000384247.3:p.Phe150Ser
ENST00000437084.1:c.398T>C ENSP00000402840.1:p.Phe133Ser
ENST00000616242.4:c.446T>C ENSP00000482149.1:p.Phe149Ser
NM_000162.3:c.449T>C NP_000153.1:p.Phe150Ser
NM_033507.1:c.452T>C NP_277042.1:p.Phe151Ser
NM_033508.1:c.446T>C NP_277043.1:p.Phe149Ser
NM_000162.4:c.449T>C NP_000153.1:p.Phe150Ser
NM_001354800.1:c.449T>C NP_001341729.1:p.Phe150Ser
NM_033507.2:c.452T>C NP_277042.1:p.Phe151Ser
NM_033508.2:c.446T>C NP_277043.1:p.Phe149Ser
NM_000162.5:c.449T>C MANE Select NP_000153.1:p.Phe150Ser
NM_033507.3:c.452T>C NP_277042.1:p.Phe151Ser
NM_033508.3:c.446T>C NP_277043.1:p.Phe149Ser