Canonical Allele Identifier: CA5681334

Gene: CFAP43

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104230656G>A , CM000672.2:g.104230656G>A	GRCh38
NC_000010.10:g.105990414G>A , CM000672.1:g.105990414G>A	GRCh37
NC_000010.9:g.105980404G>A	NCBI36
NG_051581.1:g.6722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278064.7:c.253C>T	ENSP00000278064.3:p.Arg85Trp
ENST00000357060.8:c.253C>T MANE Select	ENSP00000349568.3:p.Arg85Trp
ENST00000369719.2:c.253C>T	ENSP00000358733.2:p.Arg85Trp
ENST00000369720.6:c.253C>T	ENSP00000358734.2:p.Arg85Trp
ENST00000278064.6:c.43C>T	ENSP00000278064.2:p.Arg15Trp
ENST00000357060.7:c.253C>T	ENSP00000349568.3:p.Arg85Trp
ENST00000369719.1:c.43C>T	ENSP00000358733.1:p.Arg15Trp
ENST00000369720.5:c.43C>T	ENSP00000358734.1:p.Arg15Trp
NM_025145.5:c.253C>T	NP_079421.5:p.Arg85Trp
XM_005270171.1:c.253C>T	XP_005270228.1:p.Arg85Trp
XM_005270172.2:c.253C>T	XP_005270229.1:p.Arg85Trp
XM_011540196.1:c.253C>T	XP_011538498.1:p.Arg85Trp
XM_011540197.1:c.253C>T	XP_011538499.1:p.Arg85Trp
XM_011540198.1:c.253C>T	XP_011538500.1:p.Arg85Trp
XM_011540199.1:c.253C>T	XP_011538501.1:p.Arg85Trp
XM_011540200.1:c.253C>T	XP_011538502.1:p.Arg85Trp
XM_011540201.1:c.253C>T	XP_011538503.1:p.Arg85Trp
NM_025145.6:c.253C>T	NP_079421.5:p.Arg85Trp
XM_005270171.2:c.253C>T	XP_005270228.1:p.Arg85Trp
XM_005270172.3:c.253C>T	XP_005270229.1:p.Arg85Trp
XM_011540196.2:c.253C>T	XP_011538498.1:p.Arg85Trp
XM_011540197.2:c.253C>T	XP_011538499.1:p.Arg85Trp
XM_011540198.2:c.253C>T	XP_011538500.1:p.Arg85Trp
XM_011540199.2:c.253C>T	XP_011538501.1:p.Arg85Trp
XM_011540200.2:c.253C>T	XP_011538502.1:p.Arg85Trp
XM_011540201.2:c.253C>T	XP_011538503.1:p.Arg85Trp
XM_017016681.1:c.253C>T	XP_016872170.1:p.Arg85Trp
XM_017016682.1:c.253C>T	XP_016872171.1:p.Arg85Trp
XM_017016684.1:c.253C>T	XP_016872173.1:p.Arg85Trp
XR_002957015.1:n.202+1526C>T
NM_025145.7:c.253C>T MANE Select	NP_079421.5:p.Arg85Trp