Canonical Allele Identifier: CA961998130

Gene:

Linked Data

• dbSNP Id: rs1882064836
• gnomAD v3: 14-36385091-A-G
• gnomAD v4: 14-36385091-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36385091A>G , CM000676.2:g.36385091A>G	GRCh38
NC_000014.8:g.36854296A>G , CM000676.1:g.36854296A>G	GRCh37
NC_000014.7:g.35924047A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011537428.1:c.319-12068A>G	XP_011535730.1:n.319-12068A>G
XR_943756.1:n.358+23995A>G