Canonical Allele Identifier: CA1191096

Gene: CFAP45

Linked Data

• dbSNP Id: rs748463462
• ExAC: 1:159856494 T / C
• gnomAD v2: 1-159856494-T-C
• gnomAD v4: 1-159886704-T-C
• MyVariant Identifiers: chr1:g.159856494T>C (hg19) ; chr1:g.159886704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159886704T>C , CM000663.2:g.159886704T>C	GRCh38
NC_000001.10:g.159856494T>C , CM000663.1:g.159856494T>C	GRCh37
NC_000001.9:g.158123118T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368099.9:c.589-15A>G MANE Select	ENSP00000357079.4:n.589-15A>G
ENST00000368099.8:c.589-15A>G	ENSP00000357079.4:n.589-15A>G
ENST00000426543.6:c.334-15A>G	ENSP00000403044.2:n.334-15A>G
ENST00000476696.5:c.589-15A>G	ENSP00000483972.1:n.589-15A>G
ENST00000479940.2:c.334-15A>G	ENSP00000478944.1:n.334-15A>G
NM_012337.2:c.589-15A>G	NP_036469.2:n.589-15A>G
NM_012337.3:c.589-15A>G MANE Select	NP_036469.2:n.589-15A>G