Canonical Allele Identifier: CA5680170

Gene: CFAP43

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104146287A>C , CM000672.2:g.104146287A>C	GRCh38
NC_000010.10:g.105906045A>C , CM000672.1:g.105906045A>C	GRCh37
NC_000010.9:g.105896035A>C	NCBI36
NG_051581.1:g.91091T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025145.7:c.3831T>G MANE Select	NP_079421.5:p.Tyr1277Ter
ENST00000357060.8:c.3831T>G MANE Select	ENSP00000349568.3:p.Tyr1277Ter
NM_025145.5:c.3831T>G	NP_079421.5:p.Tyr1277Ter
NM_025145.6:c.3831T>G	NP_079421.5:p.Tyr1277Ter
ENST00000357060.7:c.3831T>G	ENSP00000349568.3:p.Tyr1277Ter
ENST00000434629.5:c.1851-723T>G
ENST00000457071.5:c.377T>G
XM_005270171.1:c.3834T>G	XP_005270228.1:p.Tyr1278Ter
XM_005270171.2:c.3834T>G	XP_005270228.1:p.Tyr1278Ter
XM_005270172.2:c.3772-723T>G	XP_005270229.1:n.3772-723T>G
XM_005270172.3:c.3772-723T>G	XP_005270229.1:n.3772-723T>G
XM_011540196.1:c.3948T>G	XP_011538498.1:p.Tyr1316Ter
XM_011540196.2:c.3948T>G	XP_011538498.1:p.Tyr1316Ter
XM_011540197.1:c.3886-723T>G	XP_011538499.1:n.3886-723T>G
XM_011540197.2:c.3886-723T>G	XP_011538499.1:n.3886-723T>G
XM_011540198.1:c.3831T>G	XP_011538500.1:p.Tyr1277Ter
XM_011540198.2:c.3831T>G	XP_011538500.1:p.Tyr1277Ter
XM_011540199.1:c.3831T>G	XP_011538501.1:p.Tyr1277Ter
XM_011540199.2:c.3831T>G	XP_011538501.1:p.Tyr1277Ter
XM_011540200.1:c.3778-3894T>G	XP_011538502.1:n.3778-3894T>G
XM_011540200.2:c.3778-3894T>G	XP_011538502.1:n.3778-3894T>G
XM_011540201.1:c.3948T>G	XP_011538503.1:p.Tyr1316Ter
XM_011540201.2:c.3948T>G	XP_011538503.1:p.Tyr1316Ter
XM_011540202.1:c.3177T>G	XP_011538504.1:p.Tyr1059Ter
XM_011540202.2:c.3177T>G	XP_011538504.1:p.Tyr1059Ter
XM_011540203.1:c.1731T>G	XP_011538505.1:p.Tyr577Ter
XM_017016681.1:c.3945T>G	XP_016872170.1:p.Tyr1315Ter
XM_017016682.1:c.3600T>G	XP_016872171.1:p.Tyr1200Ter
XM_024448177.1:c.2334T>G	XP_024303945.1:p.Tyr778Ter
XM_024448178.1:c.1731T>G	XP_024303946.1:p.Tyr577Ter
XR_002957015.1:n.5258T>G