Canonical Allele Identifier: CA185200359

Gene:

Linked Data

• dbSNP Id: rs181723642
• gnomAD v3: 8-122395595-T-A
• gnomAD v4: 8-122395595-T-A
• MyVariant Identifiers: chr8:g.123407834T>A (hg19) ; chr8:g.122395595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395595T>A , CM000670.2:g.122395595T>A	GRCh38
NC_000008.10:g.123407834T>A , CM000670.1:g.123407834T>A	GRCh37
NC_000008.9:g.123477015T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3577A>T
XR_928599.3:n.152+3577A>T