Canonical Allele Identifier: CA1933449480
Community Standard Title: NM_025145.7(CFAP43):c.1040T= (p.Val347=)
Gene: CFAP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104203727A= , CM000672.2:g.104203727A= GRCh38
NC_000010.10:g.105963485A= , CM000672.1:g.105963485A= GRCh37
NC_000010.9:g.105953475A= NCBI36
NG_051581.1:g.33651T=

Transcript Alleles

HGVS Amino-acid Change
NM_025145.7:c.1040T= MANE Select NP_079421.5:p.Val347=
ENST00000357060.8:c.1040T= MANE Select ENSP00000349568.3:p.Val347=
NM_025145.5:c.1040T= NP_079421.5:p.Val347=
NM_025145.6:c.1040T= NP_079421.5:p.Val347=
ENST00000278064.6:c.833T= ENSP00000278064.2:p.Val278=
ENST00000278064.7:c.1043T= ENSP00000278064.3:p.Val348=
ENST00000357060.7:c.1040T= ENSP00000349568.3:p.Val347=
ENST00000369719.1:c.833T= ENSP00000358733.1:p.Val278=
ENST00000369719.2:c.1043T= ENSP00000358733.2:p.Val348=
ENST00000369720.5:c.833T= ENSP00000358734.1:p.Val278=
ENST00000369720.6:c.1043T= ENSP00000358734.2:p.Val348=
XM_005270171.1:c.1043T= XP_005270228.1:p.Val348=
XM_005270171.2:c.1043T= XP_005270228.1:p.Val348=
XM_005270172.2:c.1043T= XP_005270229.1:p.Val348=
XM_005270172.3:c.1043T= XP_005270229.1:p.Val348=
XM_011540196.1:c.1043T= XP_011538498.1:p.Val348=
XM_011540196.2:c.1043T= XP_011538498.1:p.Val348=
XM_011540197.1:c.1043T= XP_011538499.1:p.Val348=
XM_011540197.2:c.1043T= XP_011538499.1:p.Val348=
XM_011540198.1:c.1043T= XP_011538500.1:p.Val348=
XM_011540198.2:c.1043T= XP_011538500.1:p.Val348=
XM_011540199.1:c.1043T= XP_011538501.1:p.Val348=
XM_011540199.2:c.1043T= XP_011538501.1:p.Val348=
XM_011540200.1:c.1043T= XP_011538502.1:p.Val348=
XM_011540200.2:c.1043T= XP_011538502.1:p.Val348=
XM_011540201.1:c.1043T= XP_011538503.1:p.Val348=
XM_011540201.2:c.1043T= XP_011538503.1:p.Val348=
XM_011540202.1:c.272T= XP_011538504.1:p.Val91=
XM_011540202.2:c.272T= XP_011538504.1:p.Val91=
XM_017016681.1:c.1040T= XP_016872170.1:p.Val347=
XM_017016682.1:c.1043T= XP_016872171.1:p.Val348=
XM_017016684.1:c.1043T= XP_016872173.1:p.Val348=
XR_002957015.1:n.926T=