Canonical Allele Identifier: CA343220049

Gene: CFAP45

Linked Data

• MyVariant Identifiers: chr1:g.159856466G>A (hg19) ; chr1:g.159886676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159886676G>A , CM000663.2:g.159886676G>A	GRCh38
NC_000001.10:g.159856466G>A , CM000663.1:g.159856466G>A	GRCh37
NC_000001.9:g.158123090G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368099.9:c.602C>T MANE Select	ENSP00000357079.4:p.Ala201Val
ENST00000368099.8:c.602C>T	ENSP00000357079.4:p.Ala201Val
ENST00000426543.6:c.347C>T	ENSP00000403044.2:p.Ala116Val
ENST00000476696.5:c.602C>T	ENSP00000483972.1:p.Ala201Val
ENST00000479940.2:c.347C>T	ENSP00000478944.1:p.Ala116Val
NM_012337.2:c.602C>T	NP_036469.2:p.Ala201Val
NM_012337.3:c.602C>T MANE Select	NP_036469.2:p.Ala201Val