Canonical Allele Identifier: CA154393478

Gene:

Linked Data

• dbSNP Id: rs771469979
• gnomAD v2: 7-13440246-C-A
• gnomAD v3: 7-13400621-C-A
• gnomAD v4: 7-13400621-C-A
• MyVariant Identifiers: chr7:g.13440246C>A (hg19) ; chr7:g.13400621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400621C>A , CM000669.2:g.13400621C>A	GRCh38
NC_000007.13:g.13440246C>A , CM000669.1:g.13440246C>A	GRCh37
NC_000007.12:g.13406771C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90298C>A