Canonical Allele Identifier: CA833583498

Gene:

Linked Data

• dbSNP Id: rs1280662504
• gnomAD v3: 7-13400667-A-G
• gnomAD v4: 7-13400667-A-G
• MyVariant Identifiers: chr7:g.13440292A>G (hg19) ; chr7:g.13400667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400667A>G , CM000669.2:g.13400667A>G	GRCh38
NC_000007.13:g.13440292A>G , CM000669.1:g.13440292A>G	GRCh37
NC_000007.12:g.13406817A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90344A>G