Canonical Allele Identifier: CA343219911
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886616A>G , CM000663.2:g.159886616A>G GRCh38
NC_000001.10:g.159856406A>G , CM000663.1:g.159856406A>G GRCh37
NC_000001.9:g.158123030A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.662T>C MANE Select ENSP00000357079.4:p.Leu221Pro
ENST00000368099.8:c.662T>C ENSP00000357079.4:p.Leu221Pro
ENST00000426543.6:c.407T>C ENSP00000403044.2:p.Leu136Pro
ENST00000476696.5:c.662T>C ENSP00000483972.1:p.Leu221Pro
ENST00000479940.2:c.407T>C ENSP00000478944.1:p.Leu136Pro
NM_012337.2:c.662T>C NP_036469.2:p.Leu221Pro
NM_012337.3:c.662T>C MANE Select NP_036469.2:p.Leu221Pro