Canonical Allele Identifier: CA378092225
Gene: CFAP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162333T>A , CM000672.2:g.104162333T>A GRCh38
NC_000010.10:g.105922091T>A , CM000672.1:g.105922091T>A GRCh37
NC_000010.9:g.105912081T>A NCBI36
NG_051581.1:g.75045A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3317A>T MANE Select ENSP00000349568.3:p.His1106Leu
ENST00000357060.7:c.3317A>T ENSP00000349568.3:p.His1106Leu
ENST00000434629.5:c.1399A>T
NM_025145.5:c.3317A>T NP_079421.5:p.His1106Leu
XM_005270171.1:c.3320A>T XP_005270228.1:p.His1107Leu
XM_005270172.2:c.3320A>T XP_005270229.1:p.His1107Leu
XM_011540196.1:c.3434A>T XP_011538498.1:p.His1145Leu
XM_011540197.1:c.3434A>T XP_011538499.1:p.His1145Leu
XM_011540198.1:c.3317A>T XP_011538500.1:p.His1106Leu
XM_011540199.1:c.3317A>T XP_011538501.1:p.His1106Leu
XM_011540200.1:c.3434A>T XP_011538502.1:p.His1145Leu
XM_011540201.1:c.3434A>T XP_011538503.1:p.His1145Leu
XM_011540202.1:c.2663A>T XP_011538504.1:p.His888Leu
XM_011540203.1:c.1217A>T XP_011538505.1:p.His406Leu
NM_025145.6:c.3317A>T NP_079421.5:p.His1106Leu
XM_005270171.2:c.3320A>T XP_005270228.1:p.His1107Leu
XM_005270172.3:c.3320A>T XP_005270229.1:p.His1107Leu
XM_011540196.2:c.3434A>T XP_011538498.1:p.His1145Leu
XM_011540197.2:c.3434A>T XP_011538499.1:p.His1145Leu
XM_011540198.2:c.3317A>T XP_011538500.1:p.His1106Leu
XM_011540199.2:c.3317A>T XP_011538501.1:p.His1106Leu
XM_011540200.2:c.3434A>T XP_011538502.1:p.His1145Leu
XM_011540201.2:c.3434A>T XP_011538503.1:p.His1145Leu
XM_011540202.2:c.2663A>T XP_011538504.1:p.His888Leu
XM_017016681.1:c.3431A>T XP_016872170.1:p.His1144Leu
XM_017016682.1:c.3086A>T XP_016872171.1:p.His1029Leu
XM_024448177.1:c.1820A>T XP_024303945.1:p.His607Leu
XM_024448178.1:c.1217A>T XP_024303946.1:p.His406Leu
XR_002957015.1:n.3203A>T
NM_025145.7:c.3317A>T MANE Select NP_079421.5:p.His1106Leu