Canonical Allele Identifier: CA371838256
Gene: CFAP418 HGNC NCBI

Linked Data

dbSNP Id: rs1253460037
gnomAD v2: 8-96259932-A-T
gnomAD v4: 8-95247704-A-T
MyVariant Identifiers: chr8:g.96259932A>T (hg19) chr8:g.95247704A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247704A>T , CM000670.2:g.95247704A>T GRCh38
NC_000008.10:g.96259932A>T , CM000670.1:g.96259932A>T GRCh37
NC_000008.9:g.96329108A>T NCBI36
NG_032804.1:g.26531T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286688.6:c.537T>A MANE Select ENSP00000286688.5:p.Tyr179Ter
ENST00000286688.5:c.537T>A ENSP00000286688.5:p.Tyr179Ter
NM_177965.3:c.537T>A NP_808880.1:p.Tyr179Ter
XM_005250799.2:c.780T>A XP_005250856.2:p.Tyr260Ter
NM_001363260.1:c.441T>A NP_001350189.1:p.Tyr147Ter
NM_177965.4:c.537T>A MANE Select NP_808880.1:p.Tyr179Ter
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