Canonical Allele Identifier: CA12631835
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1258742
ClinVar RCV Id: RCV001671272
dbSNP Id: rs1799884
gnomAD v2: 7-44229068-C-T
gnomAD v3: 7-44189469-C-T
gnomAD v4: 7-44189469-C-T
MyVariant Identifiers: chr7:g.44229068C>T (hg19) chr7:g.44189469C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44189469C>T , CM000669.2:g.44189469C>T GRCh38
NC_000007.13:g.44229068C>T , CM000669.1:g.44229068C>T GRCh37
NC_000007.12:g.44195593C>T NCBI36
NG_008847.1:g.4955G>A
NG_008847.2:g.13702G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000476008.1:n.480+8222G>A
Search 100 bp 5'
Search 100 bp 3'