Canonical Allele Identifier: CA1002011523

Gene:

Linked Data

• dbSNP Id: rs1645067106
• gnomAD v3: 1-56385024-A-G
• gnomAD v4: 1-56385024-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56385024A>G , CM000663.2:g.56385024A>G	GRCh38
NC_000001.10:g.56850696A>G , CM000663.1:g.56850696A>G	GRCh37
NC_000001.9:g.56623284A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.759+93862T>C	ENSP00000493138.1:n.759+93862T>C
ENST00000641346.1:c.366+15070T>C
ENST00000641415.1:c.192+98239T>C
ENST00000641494.1:c.378+98239T>C
ENST00000642129.1:c.768+98239T>C