Canonical Allele Identifier: CA158302414

Gene:

Linked Data

• dbSNP Id: rs563370114
• gnomAD v3: 7-46032961-C-G
• gnomAD v4: 7-46032961-C-G
• MyVariant Identifiers: chr7:g.46072559C>G (hg19) ; chr7:g.46032961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46032961C>G , CM000669.2:g.46032961C>G	GRCh38
NC_000007.13:g.46072559C>G , CM000669.1:g.46072559C>G	GRCh37
NC_000007.12:g.46039084C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745203.1:n.1270-3657C>G