Canonical Allele Identifier: CA23054266

Gene:

Linked Data

• dbSNP Id: rs988181799
• MyVariant Identifiers: chr1:g.56850718C>A (hg19) ; chr1:g.56385046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56385046C>A , CM000663.2:g.56385046C>A	GRCh38
NC_000001.10:g.56850718C>A , CM000663.1:g.56850718C>A	GRCh37
NC_000001.9:g.56623306C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000641109.1:c.759+93840G>T	ENSP00000493138.1:n.759+93840G>T
ENST00000641346.1:c.366+15048G>T
ENST00000641415.1:c.192+98217G>T
ENST00000641494.1:c.378+98217G>T
ENST00000642129.1:c.768+98217G>T