Canonical Allele Identifier: CA5680080

Gene: CFAP43

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104143452G>C , CM000672.2:g.104143452G>C	GRCh38
NC_000010.10:g.105903210G>C , CM000672.1:g.105903210G>C	GRCh37
NC_000010.9:g.105893200G>C	NCBI36
NG_051581.1:g.93926C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025145.7:c.4132C>G MANE Select	NP_079421.5:p.Arg1378Gly
ENST00000357060.8:c.4132C>G MANE Select	ENSP00000349568.3:p.Arg1378Gly
NM_025145.5:c.4132C>G	NP_079421.5:p.Arg1378Gly
NM_025145.6:c.4132C>G	NP_079421.5:p.Arg1378Gly
ENST00000357060.7:c.4132C>G	ENSP00000349568.3:p.Arg1378Gly
ENST00000434629.5:c.2127C>G
ENST00000457071.5:c.678C>G
XM_005270171.1:c.4135C>G	XP_005270228.1:p.Arg1379Gly
XM_005270171.2:c.4135C>G	XP_005270228.1:p.Arg1379Gly
XM_005270172.2:c.4048C>G	XP_005270229.1:p.Arg1350Gly
XM_005270172.3:c.4048C>G	XP_005270229.1:p.Arg1350Gly
XM_011540196.1:c.4249C>G	XP_011538498.1:p.Arg1417Gly
XM_011540196.2:c.4249C>G	XP_011538498.1:p.Arg1417Gly
XM_011540197.1:c.4162C>G	XP_011538499.1:p.Arg1388Gly
XM_011540197.2:c.4162C>G	XP_011538499.1:p.Arg1388Gly
XM_011540198.1:c.4132C>G	XP_011538500.1:p.Arg1378Gly
XM_011540198.2:c.4132C>G	XP_011538500.1:p.Arg1378Gly
XM_011540199.1:c.4132C>G	XP_011538501.1:p.Arg1378Gly
XM_011540199.2:c.4132C>G	XP_011538501.1:p.Arg1378Gly
XM_011540200.1:c.3778-1059C>G	XP_011538502.1:n.3778-1059C>G
XM_011540200.2:c.3778-1059C>G	XP_011538502.1:n.3778-1059C>G
XM_011540201.1:c.4249C>G	XP_011538503.1:p.Arg1417Gly
XM_011540201.2:c.4249C>G	XP_011538503.1:p.Arg1417Gly
XM_011540202.1:c.3478C>G	XP_011538504.1:p.Arg1160Gly
XM_011540202.2:c.3478C>G	XP_011538504.1:p.Arg1160Gly
XM_011540203.1:c.2032C>G	XP_011538505.1:p.Arg678Gly
XM_017016681.1:c.4246C>G	XP_016872170.1:p.Arg1416Gly
XM_017016682.1:c.3901C>G	XP_016872171.1:p.Arg1301Gly
XM_024448177.1:c.2635C>G	XP_024303945.1:p.Arg879Gly
XM_024448178.1:c.2032C>G	XP_024303946.1:p.Arg678Gly
XR_002957015.1:n.6257C>G