Canonical Allele Identifier: CA10631813
Gene: CFAP418 HGNC NCBI

Linked Data

ClinVar Variation Id: 363983
ClinVar RCV Id: RCV000286245 RCV000404169
dbSNP Id: rs150859301
gnomAD v2: 8-96257515-G-A
gnomAD v3: 8-95245287-G-A
gnomAD v4: 8-95245287-G-A
MyVariant Identifiers: chr8:g.96257515G>A (hg19) chr8:g.95245287G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95245287G>A , CM000670.2:g.95245287G>A GRCh38
NC_000008.10:g.96257515G>A , CM000670.1:g.96257515G>A GRCh37
NC_000008.9:g.96326691G>A NCBI36
NG_032804.1:g.28948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286688.6:c.*2330C>T MANE Select ENSP00000286688.5:n.*2330C>T
ENST00000286688.5:c.*2330C>T ENSP00000286688.5:n.*2330C>T
NM_177965.3:c.*2330C>T NP_808880.1:n.*2330C>T
NM_001363260.1:c.*2330C>T NP_001350189.1:n.*2330C>T
NM_177965.4:c.*2330C>T MANE Select NP_808880.1:n.*2330C>T
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