Canonical Allele Identifier: CA343219638
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886514A>G , CM000663.2:g.159886514A>G GRCh38
NC_000001.10:g.159856304A>G , CM000663.1:g.159856304A>G GRCh37
NC_000001.9:g.158122928A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.764T>C MANE Select ENSP00000357079.4:p.Ile255Thr
ENST00000368099.8:c.764T>C ENSP00000357079.4:p.Ile255Thr
ENST00000426543.6:c.509T>C ENSP00000403044.2:p.Ile170Thr
ENST00000476696.5:c.764T>C ENSP00000483972.1:p.Ile255Thr
NM_012337.2:c.764T>C NP_036469.2:p.Ile255Thr
NM_012337.3:c.764T>C MANE Select NP_036469.2:p.Ile255Thr