Canonical Allele Identifier: CA584988404

Gene:

Linked Data

• dbSNP Id: rs987476319
• gnomAD v2: 8-126491016-C-G
• gnomAD v3: 8-125478774-C-G
• gnomAD v4: 8-125478774-C-G
• MyVariant Identifiers: chr8:g.126491016C>G (hg19) ; chr8:g.125478774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478774C>G , CM000670.2:g.125478774C>G	GRCh38
NC_000008.10:g.126491016C>G , CM000670.1:g.126491016C>G	GRCh37
NC_000008.9:g.126560198C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928628.1:n.256+5460C>G