Canonical Allele Identifier: CA584790819

Gene:

Linked Data

• dbSNP Id: rs1220325294
• gnomAD v2: 8-123408065-G-A
• gnomAD v3: 8-122395826-G-A
• gnomAD v4: 8-122395826-G-A
• MyVariant Identifiers: chr8:g.123408065G>A (hg19) ; chr8:g.122395826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395826G>A , CM000670.2:g.122395826G>A	GRCh38
NC_000008.10:g.123408065G>A , CM000670.1:g.123408065G>A	GRCh37
NC_000008.9:g.123477246G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3346C>T
XR_928599.3:n.152+3346C>T