Canonical Allele Identifier: CA838795232
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1296899068
gnomAD v3: 7-44189382-C-G
gnomAD v4: 7-44189382-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44189382C>G , CM000669.2:g.44189382C>G GRCh38
NC_000007.13:g.44228981C>G , CM000669.1:g.44228981C>G GRCh37
NC_000007.12:g.44195506C>G NCBI36
NG_008847.1:g.5042G>C
NG_008847.2:g.13789G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000616242.5:c.-429G>C ENSP00000482149.2:n.-429G>C
ENST00000682635.1:n.58G>C
ENST00000403799.8:c.-429G>C MANE Select ENSP00000384247.3:n.-429G>C
ENST00000671824.1:c.-429G>C ENSP00000500264.1:n.-429G>C
ENST00000673284.1:c.-429G>C ENSP00000499852.1:n.-429G>C
ENST00000403799.7:c.-429G>C ENSP00000384247.3:n.-429G>C
ENST00000476008.1:n.480+8309G>C
NM_000162.3:c.-429G>C NP_000153.1:n.-429G>C
NM_000162.4:c.-429G>C NP_000153.1:n.-429G>C
NM_001354800.1:c.-429G>C NP_001341729.1:n.-429G>C
NM_000162.5:c.-429G>C MANE Select NP_000153.1:n.-429G>C