Canonical Allele Identifier: CA421350680
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856434G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886644G>A , CM000663.2:g.159886644G>A GRCh38
NC_000001.10:g.159856434G>A , CM000663.1:g.159856434G>A GRCh37
NC_000001.9:g.158123058G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.634C>T MANE Select ENSP00000357079.4:p.Leu212=
ENST00000368099.8:c.634C>T ENSP00000357079.4:p.Leu212=
ENST00000426543.6:c.379C>T ENSP00000403044.2:p.Leu127=
ENST00000476696.5:c.634C>T ENSP00000483972.1:p.Leu212=
ENST00000479940.2:c.379C>T ENSP00000478944.1:p.Leu127=
NM_012337.2:c.634C>T NP_036469.2:p.Leu212=
NM_012337.3:c.634C>T MANE Select NP_036469.2:p.Leu212=