Canonical Allele Identifier: CA583718005
Gene: CFAP418 HGNC NCBI

Linked Data

dbSNP Id: rs1290320471
gnomAD v2: 8-96259826-G-A
gnomAD v4: 8-95247598-G-A
MyVariant Identifiers: chr8:g.96259826G>A (hg19) chr8:g.95247598G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247598G>A , CM000670.2:g.95247598G>A GRCh38
NC_000008.10:g.96259826G>A , CM000670.1:g.96259826G>A GRCh37
NC_000008.9:g.96329002G>A NCBI36
NG_032804.1:g.26637C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.*19C>T MANE Select ENSP00000286688.5:n.*19C>T
ENST00000286688.5:c.*19C>T ENSP00000286688.5:n.*19C>T
NM_177965.3:c.*19C>T NP_808880.1:n.*19C>T
XM_005250799.2:c.*19C>T XP_005250856.2:n.*19C>T
NM_001363260.1:c.*19C>T NP_001350189.1:n.*19C>T
NM_177965.4:c.*19C>T MANE Select NP_808880.1:n.*19C>T
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