Canonical Allele Identifier: CA158302426

Gene:

Linked Data

• dbSNP Id: rs547971738
• gnomAD v3: 7-46033061-T-A
• gnomAD v4: 7-46033061-T-A
• MyVariant Identifiers: chr7:g.46072659T>A (hg19) ; chr7:g.46033061T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46033061T>A , CM000669.2:g.46033061T>A	GRCh38
NC_000007.13:g.46072659T>A , CM000669.1:g.46072659T>A	GRCh37
NC_000007.12:g.46039184T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745203.1:n.1270-3557T>A