Canonical Allele Identifier: CA4815113
Gene: CFAP418 HGNC NCBI

Linked Data

ClinVar Variation Id: 417788
ClinVar RCV Id: RCV000477743 RCV001379170
dbSNP Id: rs748014296
ExAC: 8:96259914 C / T
gnomAD v2: 8-96259914-C-T
gnomAD v4: 8-95247686-C-T
MyVariant Identifiers: chr8:g.96259914C>T (hg19) chr8:g.95247686C>T (hg38)
PubMed: PMID:25802487
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247686C>T , CM000670.2:g.95247686C>T GRCh38
NC_000008.10:g.96259914C>T , CM000670.1:g.96259914C>T GRCh37
NC_000008.9:g.96329090C>T NCBI36
NG_032804.1:g.26549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286688.6:c.555G>A MANE Select ENSP00000286688.5:p.Trp185Ter
ENST00000286688.5:c.555G>A ENSP00000286688.5:p.Trp185Ter
NM_177965.3:c.555G>A NP_808880.1:p.Trp185Ter
XM_005250799.2:c.798G>A XP_005250856.2:p.Trp266Ter
NM_001363260.1:c.459G>A NP_001350189.1:p.Trp153Ter
NM_177965.4:c.555G>A MANE Select NP_808880.1:p.Trp185Ter
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