Canonical Allele Identifier: CA729869681

Gene:

Linked Data

• dbSNP Id: rs1196575045
• gnomAD v3: 1-19874442-G-T
• gnomAD v4: 1-19874442-G-T
• MyVariant Identifiers: chr1:g.20200935G>T (hg19) ; chr1:g.19874442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19874442G>T , CM000663.2:g.19874442G>T	GRCh38
NC_000001.10:g.20200935G>T , CM000663.1:g.20200935G>T	GRCh37
NC_000001.9:g.20073522G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947027.1:n.266-8690C>A
XR_947028.1:n.266-8690C>A
XR_947027.2:n.167-8690C>A
XR_947028.2:n.167-8690C>A