Canonical Allele Identifier: CA730295500

Gene:

Linked Data

• dbSNP Id: rs1053770656
• gnomAD v3: 1-2036387-G-T
• gnomAD v4: 1-2036387-G-T
• MyVariant Identifiers: chr1:g.1967826G>T (hg19) ; chr1:g.2036387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036387G>T , CM000663.2:g.2036387G>T	GRCh38
NC_000001.10:g.1967826G>T , CM000663.1:g.1967826G>T	GRCh37
NC_000001.9:g.1957686G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946823.1:n.773+48C>A
XR_001737845.2:n.824C>A
XR_946823.3:n.776+48C>A