Canonical Allele Identifier: CA421350660
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856407G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886617G>A , CM000663.2:g.159886617G>A GRCh38
NC_000001.10:g.159856407G>A , CM000663.1:g.159856407G>A GRCh37
NC_000001.9:g.158123031G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.661C>T MANE Select ENSP00000357079.4:p.Leu221=
ENST00000368099.8:c.661C>T ENSP00000357079.4:p.Leu221=
ENST00000426543.6:c.406C>T ENSP00000403044.2:p.Leu136=
ENST00000476696.5:c.661C>T ENSP00000483972.1:p.Leu221=
ENST00000479940.2:c.406C>T ENSP00000478944.1:p.Leu136=
NM_012337.2:c.661C>T NP_036469.2:p.Leu221=
NM_012337.3:c.661C>T MANE Select NP_036469.2:p.Leu221=