Canonical Allele Identifier: CA16841570

Gene:

Linked Data

• dbSNP Id: rs554579860
• gnomAD v2: 1-1967787-G-A
• gnomAD v3: 1-2036348-G-A
• gnomAD v4: 1-2036348-G-A
• MyVariant Identifiers: chr1:g.1967787G>A (hg19) ; chr1:g.2036348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036348G>A , CM000663.2:g.2036348G>A	GRCh38
NC_000001.10:g.1967787G>A , CM000663.1:g.1967787G>A	GRCh37
NC_000001.9:g.1957647G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946823.1:n.773+87C>T
XR_001737845.2:n.863C>T
XR_946823.3:n.776+87C>T