Canonical Allele Identifier: CA523121724

Gene:

Linked Data

• dbSNP Id: rs1457693821
• gnomAD v2: 1-56727798-T-A
• gnomAD v3: 1-56262126-T-A
• gnomAD v4: 1-56262126-T-A
• MyVariant Identifiers: chr1:g.56727798T>A (hg19) ; chr1:g.56262126T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56262126T>A , CM000663.2:g.56262126T>A	GRCh38
NC_000001.10:g.56727798T>A , CM000663.1:g.56727798T>A	GRCh37
NC_000001.9:g.56500386T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.760-12926A>T	ENSP00000493138.1:n.760-12926A>T
ENST00000641346.1:c.367-12926A>T
ENST00000641415.1:c.193-8233A>T
ENST00000641494.1:c.379-12926A>T
ENST00000642129.1:c.769-12926A>T