Canonical Allele Identifier: CA573792874
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs4607517
gnomAD v2: 7-44235668-G-C
gnomAD v3: 7-44196069-G-C
gnomAD v4: 7-44196069-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44196069G>C , CM000669.2:g.44196069G>C GRCh38
NC_000007.13:g.44235668G>C , CM000669.1:g.44235668G>C GRCh37
NC_000007.12:g.44202193G>C NCBI36
NG_008847.2:g.7102C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476008.1:n.480+1622C>G