Canonical Allele Identifier: CA16841582

Gene:

Linked Data

• dbSNP Id: rs557645444
• gnomAD v2: 1-1967825-C-A
• gnomAD v3: 1-2036386-C-A
• gnomAD v4: 1-2036386-C-A
• MyVariant Identifiers: chr1:g.1967825C>A (hg19) ; chr1:g.2036386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2036386C>A , CM000663.2:g.2036386C>A	GRCh38
NC_000001.10:g.1967825C>A , CM000663.1:g.1967825C>A	GRCh37
NC_000001.9:g.1957685C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946823.1:n.773+49G>T
XR_001737845.2:n.825G>T
XR_946823.3:n.776+49G>T