Canonical Allele Identifier: CA961998036

Gene:

Linked Data

• dbSNP Id: rs1882060592
• gnomAD v3: 14-36384823-C-A
• gnomAD v4: 14-36384823-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36384823C>A , CM000676.2:g.36384823C>A	GRCh38
NC_000014.8:g.36854028C>A , CM000676.1:g.36854028C>A	GRCh37
NC_000014.7:g.35923779C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12336C>A	XP_011535730.1:n.319-12336C>A
XR_943756.1:n.358+23727C>A