Canonical Allele Identifier: CA154393466

Gene:

Linked Data

• dbSNP Id: rs1021677342
• gnomAD v2: 7-13440194-T-G
• gnomAD v3: 7-13400569-T-G
• gnomAD v4: 7-13400569-T-G
• MyVariant Identifiers: chr7:g.13440194T>G (hg19) ; chr7:g.13400569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400569T>G , CM000669.2:g.13400569T>G	GRCh38
NC_000007.13:g.13440194T>G , CM000669.1:g.13440194T>G	GRCh37
NC_000007.12:g.13406719T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90246T>G