Canonical Allele Identifier: CA23054267

Gene:

Linked Data

• dbSNP Id: rs1030489338
• MyVariant Identifiers: chr1:g.56850724A>G (hg19) ; chr1:g.56385052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56385052A>G , CM000663.2:g.56385052A>G	GRCh38
NC_000001.10:g.56850724A>G , CM000663.1:g.56850724A>G	GRCh37
NC_000001.9:g.56623312A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000641109.1:c.759+93834T>C	ENSP00000493138.1:n.759+93834T>C
ENST00000641346.1:c.366+15042T>C
ENST00000641415.1:c.192+98211T>C
ENST00000641494.1:c.378+98211T>C
ENST00000642129.1:c.768+98211T>C