Canonical Allele Identifier: CA35069271

Gene:

Linked Data

• dbSNP Id: rs925346800
• gnomAD v3: 1-192800686-T-C
• gnomAD v4: 1-192800686-T-C
• MyVariant Identifiers: chr1:g.192769816T>C (hg19) ; chr1:g.192800686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800686T>C , CM000663.2:g.192800686T>C	GRCh38
NC_000001.10:g.192769816T>C , CM000663.1:g.192769816T>C	GRCh37
NC_000001.9:g.191036439T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.116T>C