Canonical Allele Identifier: CA520642657

Gene:

Linked Data

• dbSNP Id: rs1343852477
• gnomAD v2: 1-1967843-C-T
• gnomAD v3: 1-2036404-C-T
• gnomAD v4: 1-2036404-C-T
• MyVariant Identifiers: chr1:g.1967843C>T (hg19) ; chr1:g.2036404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036404C>T , CM000663.2:g.2036404C>T	GRCh38
NC_000001.10:g.1967843C>T , CM000663.1:g.1967843C>T	GRCh37
NC_000001.9:g.1957703C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946823.1:n.773+31G>A
XR_001737845.2:n.807G>A
XR_946823.3:n.776+31G>A