Canonical Allele Identifier: CA584988389

Gene:

Linked Data

• dbSNP Id: rs1169493484
• gnomAD v2: 8-126490625-G-C
• gnomAD v3: 8-125478383-G-C
• gnomAD v4: 8-125478383-G-C
• MyVariant Identifiers: chr8:g.126490625G>C (hg19) ; chr8:g.125478383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478383G>C , CM000670.2:g.125478383G>C	GRCh38
NC_000008.10:g.126490625G>C , CM000670.1:g.126490625G>C	GRCh37
NC_000008.9:g.126559807G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5069G>C