Canonical Allele Identifier: CA16841578

Gene:

Linked Data

• dbSNP Id: rs545516206
• gnomAD v2: 1-1967818-C-A
• gnomAD v3: 1-2036379-C-A
• gnomAD v4: 1-2036379-C-A
• MyVariant Identifiers: chr1:g.1967818C>A (hg19) ; chr1:g.2036379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036379C>A , CM000663.2:g.2036379C>A	GRCh38
NC_000001.10:g.1967818C>A , CM000663.1:g.1967818C>A	GRCh37
NC_000001.9:g.1957678C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_946823.1:n.773+56G>T
XR_001737845.2:n.832G>T
XR_946823.3:n.776+56G>T