Canonical Allele Identifier: CA573791501

Gene: GCK

Linked Data

• ClinVar Variation Id: 435295
• ClinVar RCV Id: RCV000504402 ; RCV002463689
• dbSNP Id: rs1329261791
• gnomAD v2: 7-44229039-G-C
• gnomAD v3: 7-44189440-G-C
• gnomAD v4: 7-44189440-G-C
• MyVariant Identifiers: chr7:g.44229039G>C (hg19) ; chr7:g.44189440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44189440G>C , CM000669.2:g.44189440G>C	GRCh38
NC_000007.13:g.44229039G>C , CM000669.1:g.44229039G>C	GRCh37
NC_000007.12:g.44195564G>C	NCBI36
NG_008847.1:g.4984C>G
NG_008847.2:g.13731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476008.1:n.480+8251C>G