Canonical Allele Identifier: CA16841576

Gene:

Linked Data

• dbSNP Id: rs745322115
• gnomAD v2: 1-1967798-G-A
• gnomAD v3: 1-2036359-G-A
• gnomAD v4: 1-2036359-G-A
• MyVariant Identifiers: chr1:g.1967798G>A (hg19) ; chr1:g.2036359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036359G>A , CM000663.2:g.2036359G>A	GRCh38
NC_000001.10:g.1967798G>A , CM000663.1:g.1967798G>A	GRCh37
NC_000001.9:g.1957658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_946823.1:n.773+76C>T
XR_001737845.2:n.852C>T
XR_946823.3:n.776+76C>T