Canonical Allele Identifier: CA35069262

Gene:

Linked Data

• dbSNP Id: rs993302493
• gnomAD v2: 1-192769738-C-T
• gnomAD v3: 1-192800608-C-T
• gnomAD v4: 1-192800608-C-T
• MyVariant Identifiers: chr1:g.192769738C>T (hg19) ; chr1:g.192800608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800608C>T , CM000663.2:g.192800608C>T	GRCh38
NC_000001.10:g.192769738C>T , CM000663.1:g.192769738C>T	GRCh37
NC_000001.9:g.191036361C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.38C>T