Canonical Allele Identifier: CA584988302

Gene:

Linked Data

• dbSNP Id: rs1305736448
• gnomAD v2: 8-126490569-A-C
• gnomAD v3: 8-125478327-A-C
• gnomAD v4: 8-125478327-A-C
• MyVariant Identifiers: chr8:g.126490569A>C (hg19) ; chr8:g.125478327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478327A>C , CM000670.2:g.125478327A>C	GRCh38
NC_000008.10:g.126490569A>C , CM000670.1:g.126490569A>C	GRCh37
NC_000008.9:g.126559751A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5013A>C