Canonical Allele Identifier: CA23040707

Gene:

Linked Data

• dbSNP Id: rs902639703
• gnomAD v3: 1-56262182-G-A
• gnomAD v4: 1-56262182-G-A
• MyVariant Identifiers: chr1:g.56727854G>A (hg19) ; chr1:g.56262182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56262182G>A , CM000663.2:g.56262182G>A	GRCh38
NC_000001.10:g.56727854G>A , CM000663.1:g.56727854G>A	GRCh37
NC_000001.9:g.56500442G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.760-12982C>T	ENSP00000493138.1:n.760-12982C>T
ENST00000641346.1:c.367-12982C>T
ENST00000641415.1:c.193-8289C>T
ENST00000641494.1:c.379-12982C>T
ENST00000642129.1:c.769-12982C>T