Canonical Allele Identifier: CA8962426

Gene: CFAP53

Linked Data

• ClinVar Variation Id: 262551
• ClinVar RCV Id: RCV000250772 ; RCV000878482
• dbSNP Id: rs76722120
• ExAC: 18:47787602 C / T
• gnomAD v2: 18-47787602-C-T
• gnomAD v3: 18-50261232-C-T
• gnomAD v4: 18-50261232-C-T
• MyVariant Identifiers: chr18:g.47787602C>T (hg19) ; chr18:g.50261232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50261232C>T , CM000680.2:g.50261232C>T	GRCh38
NC_000018.9:g.47787602C>T , CM000680.1:g.47787602C>T	GRCh37
NC_000018.8:g.46041600C>T	NCBI36
NG_042815.1:g.10291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398545.5:c.305G>A MANE Select	ENSP00000381553.3:p.Arg102His
ENST00000398545.4:c.305G>A	ENSP00000381553.3:p.Arg102His
NM_145020.3:c.305G>A	NP_659457.2:p.Arg102His
NM_145020.4:c.305G>A	NP_659457.2:p.Arg102His
NM_145020.5:c.305G>A MANE Select	NP_659457.2:p.Arg102His