Canonical Allele Identifier: CA421350674
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856426C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886636C>T , CM000663.2:g.159886636C>T GRCh38
NC_000001.10:g.159856426C>T , CM000663.1:g.159856426C>T GRCh37
NC_000001.9:g.158123050C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.642G>A MANE Select ENSP00000357079.4:p.Lys214=
ENST00000368099.8:c.642G>A ENSP00000357079.4:p.Lys214=
ENST00000426543.6:c.387G>A ENSP00000403044.2:p.Lys129=
ENST00000476696.5:c.642G>A ENSP00000483972.1:p.Lys214=
ENST00000479940.2:c.387G>A ENSP00000478944.1:p.Lys129=
NM_012337.2:c.642G>A NP_036469.2:p.Lys214=
NM_012337.3:c.642G>A MANE Select NP_036469.2:p.Lys214=