Canonical Allele Identifier: CA20757703

Gene:

Linked Data

• dbSNP Id: rs547289014
• gnomAD v3: 1-34523660-C-T
• gnomAD v4: 1-34523660-C-T
• MyVariant Identifiers: chr1:g.34989261C>T (hg19) ; chr1:g.34523660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523660C>T , CM000663.2:g.34523660C>T	GRCh38
NC_000001.10:g.34989261C>T , CM000663.1:g.34989261C>T	GRCh37
NC_000001.9:g.34761848C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947171.1:n.1073+23919G>A
XR_001737964.1:n.991+23919G>A