Canonical Allele Identifier: CA343219929
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886623T>C , CM000663.2:g.159886623T>C GRCh38
NC_000001.10:g.159856413T>C , CM000663.1:g.159856413T>C GRCh37
NC_000001.9:g.158123037T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.655A>G MANE Select ENSP00000357079.4:p.Lys219Glu
ENST00000368099.8:c.655A>G ENSP00000357079.4:p.Lys219Glu
ENST00000426543.6:c.400A>G ENSP00000403044.2:p.Lys134Glu
ENST00000476696.5:c.655A>G ENSP00000483972.1:p.Lys219Glu
ENST00000479940.2:c.400A>G ENSP00000478944.1:p.Lys134Glu
NM_012337.2:c.655A>G NP_036469.2:p.Lys219Glu
NM_012337.3:c.655A>G MANE Select NP_036469.2:p.Lys219Glu