Canonical Allele Identifier: CA1086017949

Gene:

Linked Data

• dbSNP Id: rs1766139846
• gnomAD v3: 6-11943380-G-A
• gnomAD v4: 6-11943380-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943380G>A , CM000668.2:g.11943380G>A	GRCh38
NC_000006.11:g.11943613G>A , CM000668.1:g.11943613G>A	GRCh37
NC_000006.10:g.12051599G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-8155G>A