Canonical Allele Identifier: CA526677636

Gene: CFAP45

Linked Data

• dbSNP Id: rs1386942627
• gnomAD v2: 1-159856520-T-A
• MyVariant Identifiers: chr1:g.159856520T>A (hg19) ; chr1:g.159886730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159886730T>A , CM000663.2:g.159886730T>A	GRCh38
NC_000001.10:g.159856520T>A , CM000663.1:g.159856520T>A	GRCh37
NC_000001.9:g.158123144T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368099.9:c.589-41A>T MANE Select	ENSP00000357079.4:n.589-41A>T
ENST00000368099.8:c.589-41A>T	ENSP00000357079.4:n.589-41A>T
ENST00000426543.6:c.334-41A>T	ENSP00000403044.2:n.334-41A>T
ENST00000476696.5:c.589-41A>T	ENSP00000483972.1:n.589-41A>T
ENST00000479940.2:c.334-41A>T	ENSP00000478944.1:n.334-41A>T
NM_012337.2:c.589-41A>T	NP_036469.2:n.589-41A>T
NM_012337.3:c.589-41A>T MANE Select	NP_036469.2:n.589-41A>T