Canonical Allele Identifier: CA573843899

Gene:

Linked Data

• dbSNP Id: rs948030482
• gnomAD v2: 7-41821989-G-A
• MyVariant Identifiers: chr7:g.41821989G>A (hg19) ; chr7:g.41782391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782391G>A , CM000669.2:g.41782391G>A	GRCh38
NC_000007.13:g.41821989G>A , CM000669.1:g.41821989G>A	GRCh37
NC_000007.12:g.41788514G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46677G>A
XR_001745186.1:n.954+46687G>A