Canonical Allele Identifier: CA574382227

Gene:

Linked Data

• dbSNP Id: rs1200853422
• gnomAD v2: 7-46072605-G-T
• MyVariant Identifiers: chr7:g.46072605G>T (hg19) ; chr7:g.46033007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46033007G>T , CM000669.2:g.46033007G>T	GRCh38
NC_000007.13:g.46072605G>T , CM000669.1:g.46072605G>T	GRCh37
NC_000007.12:g.46039130G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745203.1:n.1270-3611G>T