Canonical Allele Identifier: CA371838258

Gene: CFAP418

Linked Data

• MyVariant Identifiers: chr8:g.96259933T>A (hg19) ; chr8:g.95247705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247705T>A , CM000670.2:g.95247705T>A	GRCh38
NC_000008.10:g.96259933T>A , CM000670.1:g.96259933T>A	GRCh37
NC_000008.9:g.96329109T>A	NCBI36
NG_032804.1:g.26530A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286688.6:c.536A>T MANE Select	ENSP00000286688.5:p.Tyr179Phe
ENST00000286688.5:c.536A>T	ENSP00000286688.5:p.Tyr179Phe
NM_177965.3:c.536A>T	NP_808880.1:p.Tyr179Phe
XM_005250799.2:c.779A>T	XP_005250856.2:p.Tyr260Phe
NM_001363260.1:c.440A>T	NP_001350189.1:p.Tyr147Phe
NM_177965.4:c.536A>T MANE Select	NP_808880.1:p.Tyr179Phe