Canonical Allele Identifier: CA421350746
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856477A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886687A>G , CM000663.2:g.159886687A>G GRCh38
NC_000001.10:g.159856477A>G , CM000663.1:g.159856477A>G GRCh37
NC_000001.9:g.158123101A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.591T>C MANE Select ENSP00000357079.4:p.Ile197=
ENST00000368099.8:c.591T>C ENSP00000357079.4:p.Ile197=
ENST00000426543.6:c.336T>C ENSP00000403044.2:p.Ile112=
ENST00000476696.5:c.591T>C ENSP00000483972.1:p.Ile197=
ENST00000479940.2:c.336T>C ENSP00000478944.1:p.Ile112=
NM_012337.2:c.591T>C NP_036469.2:p.Ile197=
NM_012337.3:c.591T>C MANE Select NP_036469.2:p.Ile197=