Canonical Allele Identifier: CA23040714

Gene:

Linked Data

• dbSNP Id: rs887606238
• gnomAD v3: 1-56262251-T-C
• gnomAD v4: 1-56262251-T-C
• MyVariant Identifiers: chr1:g.56727923T>C (hg19) ; chr1:g.56262251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56262251T>C , CM000663.2:g.56262251T>C	GRCh38
NC_000001.10:g.56727923T>C , CM000663.1:g.56727923T>C	GRCh37
NC_000001.9:g.56500511T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.760-13051A>G	ENSP00000493138.1:n.760-13051A>G
ENST00000641346.1:c.367-13051A>G
ENST00000641415.1:c.193-8358A>G
ENST00000641494.1:c.379-13051A>G
ENST00000642129.1:c.769-13051A>G