Canonical Allele Identifier: CA10771196

Gene:

Linked Data

• dbSNP Id: rs3005886
• gnomAD v2: 1-56776359-A-C
• gnomAD v3: 1-56310687-A-C
• gnomAD v4: 1-56310687-A-C
• MyVariant Identifiers: chr1:g.56776359A>C (hg19) ; chr1:g.56310687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56310687A>C , CM000663.2:g.56310687A>C	GRCh38
NC_000001.10:g.56776359A>C , CM000663.1:g.56776359A>C	GRCh37
NC_000001.9:g.56548947A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.760-61487T>G	ENSP00000493138.1:n.760-61487T>G
ENST00000641346.1:c.367-61487T>G
ENST00000641415.1:c.193-56794T>G
ENST00000641494.1:c.379-61487T>G
ENST00000642129.1:c.769-61487T>G