Canonical Allele Identifier: CA10575794

Gene: CFAP53

Linked Data

• ClinVar Variation Id: 217132
• ClinVar RCV Id: RCV001778788 ; RCV000240665 ; RCV001812206
• dbSNP Id: rs886037751
• gnomAD v2: 18-47787435-T-C
• gnomAD v3: 18-50261065-T-C
• gnomAD v4: 18-50261065-T-C
• MyVariant Identifiers: chr18:g.47787435T>C (hg19) ; chr18:g.50261065T>C (hg38)
• PubMed: PMID:26531781

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50261065T>C , CM000680.2:g.50261065T>C	GRCh38
NC_000018.9:g.47787435T>C , CM000680.1:g.47787435T>C	GRCh37
NC_000018.8:g.46041433T>C	NCBI36
NG_042815.1:g.10458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398545.5:c.472A>G MANE Select	ENSP00000381553.3:p.Arg158Gly
ENST00000398545.4:c.472A>G	ENSP00000381553.3:p.Arg158Gly
NM_145020.3:c.472A>G	NP_659457.2:p.Arg158Gly
NM_145020.4:c.472A>G	NP_659457.2:p.Arg158Gly
NM_145020.5:c.472A>G MANE Select	NP_659457.2:p.Arg158Gly