Canonical Allele Identifier: CA16841636

Gene:

Linked Data

• dbSNP Id: rs563200868
• gnomAD v2: 1-1967864-C-T
• gnomAD v3: 1-2036425-C-T
• gnomAD v4: 1-2036425-C-T
• COSMIC: COSN5798031
• MyVariant Identifiers: chr1:g.1967864C>T (hg19) ; chr1:g.2036425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036425C>T , CM000663.2:g.2036425C>T	GRCh38
NC_000001.10:g.1967864C>T , CM000663.1:g.1967864C>T	GRCh37
NC_000001.9:g.1957724C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_946823.1:n.773+10G>A
XR_001737845.2:n.786G>A
XR_946823.3:n.776+10G>A