Canonical Allele Identifier: CA5680323

Gene: CFAP43

Linked Data

• dbSNP Id: rs772172286
• ExAC: 10:105921780 C / T
• gnomAD v2: 10-105921780-C-T
• gnomAD v3: 10-104162022-C-T
• gnomAD v4: 10-104162022-C-T
• COSMIC: COSM914513
• MyVariant Identifiers: chr10:g.105921780C>T (hg19) ; chr10:g.104162022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162022C>T , CM000672.2:g.104162022C>T	GRCh38
NC_000010.10:g.105921780C>T , CM000672.1:g.105921780C>T	GRCh37
NC_000010.9:g.105911770C>T	NCBI36
NG_051581.1:g.75356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3353G>A MANE Select	ENSP00000349568.3:p.Arg1118Gln
ENST00000357060.7:c.3353G>A	ENSP00000349568.3:p.Arg1118Gln
ENST00000434629.5:c.1435G>A
NM_025145.5:c.3353G>A	NP_079421.5:p.Arg1118Gln
XM_005270171.1:c.3356G>A	XP_005270228.1:p.Arg1119Gln
XM_005270172.2:c.3356G>A	XP_005270229.1:p.Arg1119Gln
XM_011540196.1:c.3470G>A	XP_011538498.1:p.Arg1157Gln
XM_011540197.1:c.3470G>A	XP_011538499.1:p.Arg1157Gln
XM_011540198.1:c.3353G>A	XP_011538500.1:p.Arg1118Gln
XM_011540199.1:c.3353G>A	XP_011538501.1:p.Arg1118Gln
XM_011540200.1:c.3470G>A	XP_011538502.1:p.Arg1157Gln
XM_011540201.1:c.3470G>A	XP_011538503.1:p.Arg1157Gln
XM_011540202.1:c.2699G>A	XP_011538504.1:p.Arg900Gln
XM_011540203.1:c.1253G>A	XP_011538505.1:p.Arg418Gln
NM_025145.6:c.3353G>A	NP_079421.5:p.Arg1118Gln
XM_005270171.2:c.3356G>A	XP_005270228.1:p.Arg1119Gln
XM_005270172.3:c.3356G>A	XP_005270229.1:p.Arg1119Gln
XM_011540196.2:c.3470G>A	XP_011538498.1:p.Arg1157Gln
XM_011540197.2:c.3470G>A	XP_011538499.1:p.Arg1157Gln
XM_011540198.2:c.3353G>A	XP_011538500.1:p.Arg1118Gln
XM_011540199.2:c.3353G>A	XP_011538501.1:p.Arg1118Gln
XM_011540200.2:c.3470G>A	XP_011538502.1:p.Arg1157Gln
XM_011540201.2:c.3470G>A	XP_011538503.1:p.Arg1157Gln
XM_011540202.2:c.2699G>A	XP_011538504.1:p.Arg900Gln
XM_017016681.1:c.3467G>A	XP_016872170.1:p.Arg1156Gln
XM_017016682.1:c.3122G>A	XP_016872171.1:p.Arg1041Gln
XM_024448177.1:c.1856G>A	XP_024303945.1:p.Arg619Gln
XM_024448178.1:c.1253G>A	XP_024303946.1:p.Arg418Gln
XR_002957015.1:n.3239G>A
NM_025145.7:c.3353G>A MANE Select	NP_079421.5:p.Arg1118Gln