Canonical Allele Identifier: CA157884839
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs112257899
gnomAD v2: 7-44229079-G-A
gnomAD v3: 7-44189480-G-A
gnomAD v4: 7-44189480-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44189480G>A , CM000669.2:g.44189480G>A GRCh38
NC_000007.13:g.44229079G>A , CM000669.1:g.44229079G>A GRCh37
NC_000007.12:g.44195604G>A NCBI36
NG_008847.1:g.4944C>T
NG_008847.2:g.13691C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000476008.1:n.480+8211C>T