Canonical Allele Identifier: CA729343833

Gene:

Linked Data

• dbSNP Id: rs1253471153
• gnomAD v3: 1-193121838-C-A
• gnomAD v4: 1-193121838-C-A
• MyVariant Identifiers: chr1:g.193090968C>A (hg19) ; chr1:g.193121838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121838C>A , CM000663.2:g.193121838C>A	GRCh38
NC_000001.10:g.193090968C>A , CM000663.1:g.193090968C>A	GRCh37
NC_000001.9:g.191357591C>A	NCBI36
NG_012691.1:g.4881C>A , LRG_507:g.4881C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1819G>T