Canonical Allele Identifier: CA371838251
Gene: CFAP418 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.96259930G>T (hg19) chr8:g.95247702G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247702G>T , CM000670.2:g.95247702G>T GRCh38
NC_000008.10:g.96259930G>T , CM000670.1:g.96259930G>T GRCh37
NC_000008.9:g.96329106G>T NCBI36
NG_032804.1:g.26533C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.539C>A MANE Select ENSP00000286688.5:p.Ala180Asp
ENST00000286688.5:c.539C>A ENSP00000286688.5:p.Ala180Asp
NM_177965.3:c.539C>A NP_808880.1:p.Ala180Asp
XM_005250799.2:c.782C>A XP_005250856.2:p.Ala261Asp
NM_001363260.1:c.443C>A NP_001350189.1:p.Ala148Asp
NM_177965.4:c.539C>A MANE Select NP_808880.1:p.Ala180Asp
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