Canonical Allele Identifier: CA371838261

Gene: CFAP418

Linked Data

• dbSNP Id: rs1811643912
• MyVariant Identifiers: chr8:g.96259934A>G (hg19) ; chr8:g.95247706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247706A>G , CM000670.2:g.95247706A>G	GRCh38
NC_000008.10:g.96259934A>G , CM000670.1:g.96259934A>G	GRCh37
NC_000008.9:g.96329110A>G	NCBI36
NG_032804.1:g.26529T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000286688.6:c.535T>C MANE Select	ENSP00000286688.5:p.Tyr179His
ENST00000286688.5:c.535T>C	ENSP00000286688.5:p.Tyr179His
NM_177965.3:c.535T>C	NP_808880.1:p.Tyr179His
XM_005250799.2:c.778T>C	XP_005250856.2:p.Tyr260His
NM_001363260.1:c.439T>C	NP_001350189.1:p.Tyr147His
NM_177965.4:c.535T>C MANE Select	NP_808880.1:p.Tyr179His