Canonical Allele Identifier: CA737156488

Gene:

Linked Data

• dbSNP Id: rs1183221573
• MyVariant Identifiers: chr1:g.56850755C>A (hg19) ; chr1:g.56385083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56385083C>A , CM000663.2:g.56385083C>A	GRCh38
NC_000001.10:g.56850755C>A , CM000663.1:g.56850755C>A	GRCh37
NC_000001.9:g.56623343C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641109.1:c.759+93803G>T	ENSP00000493138.1:n.759+93803G>T
ENST00000641346.1:c.366+15011G>T
ENST00000641415.1:c.192+98180G>T
ENST00000641494.1:c.378+98180G>T
ENST00000642129.1:c.768+98180G>T