Canonical Allele Identifier: CA10628415
Gene: CFAP418 HGNC NCBI

Linked Data

ClinVar Variation Id: 363985
ClinVar RCV Id: RCV000303769 RCV000345990
dbSNP Id: rs184350873
gnomAD v2: 8-96257743-C-T
gnomAD v3: 8-95245515-C-T
gnomAD v4: 8-95245515-C-T
MyVariant Identifiers: chr8:g.96257743C>T (hg19) chr8:g.95245515C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95245515C>T , CM000670.2:g.95245515C>T GRCh38
NC_000008.10:g.96257743C>T , CM000670.1:g.96257743C>T GRCh37
NC_000008.9:g.96326919C>T NCBI36
NG_032804.1:g.28720G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286688.6:c.*2102G>A MANE Select ENSP00000286688.5:n.*2102G>A
ENST00000286688.5:c.*2102G>A ENSP00000286688.5:n.*2102G>A
NM_177965.3:c.*2102G>A NP_808880.1:n.*2102G>A
NM_001363260.1:c.*2102G>A NP_001350189.1:n.*2102G>A
NM_177965.4:c.*2102G>A MANE Select NP_808880.1:n.*2102G>A
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