Canonical Allele Identifier: CA32988061

Gene:

Linked Data

• dbSNP Id: rs143092236
• gnomAD v2: 1-172710950-C-T
• gnomAD v3: 1-172741810-C-T
• gnomAD v4: 1-172741810-C-T
• MyVariant Identifiers: chr1:g.172710950C>T (hg19) ; chr1:g.172741810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172741810C>T , CM000663.2:g.172741810C>T	GRCh38
NC_000001.10:g.172710950C>T , CM000663.1:g.172710950C>T	GRCh37
NC_000001.9:g.170977573C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_922289.1:n.27-34009C>T