Canonical Allele Identifier: CA471342260
Gene: CFAP43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105921779T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162021T>C , CM000672.2:g.104162021T>C GRCh38
NC_000010.10:g.105921779T>C , CM000672.1:g.105921779T>C GRCh37
NC_000010.9:g.105911769T>C NCBI36
NG_051581.1:g.75357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3354A>G MANE Select ENSP00000349568.3:p.Arg1118=
ENST00000357060.7:c.3354A>G ENSP00000349568.3:p.Arg1118=
ENST00000434629.5:c.1436A>G
NM_025145.5:c.3354A>G NP_079421.5:p.Arg1118=
XM_005270171.1:c.3357A>G XP_005270228.1:p.Arg1119=
XM_005270172.2:c.3357A>G XP_005270229.1:p.Arg1119=
XM_011540196.1:c.3471A>G XP_011538498.1:p.Arg1157=
XM_011540197.1:c.3471A>G XP_011538499.1:p.Arg1157=
XM_011540198.1:c.3354A>G XP_011538500.1:p.Arg1118=
XM_011540199.1:c.3354A>G XP_011538501.1:p.Arg1118=
XM_011540200.1:c.3471A>G XP_011538502.1:p.Arg1157=
XM_011540201.1:c.3471A>G XP_011538503.1:p.Arg1157=
XM_011540202.1:c.2700A>G XP_011538504.1:p.Arg900=
XM_011540203.1:c.1254A>G XP_011538505.1:p.Arg418=
NM_025145.6:c.3354A>G NP_079421.5:p.Arg1118=
XM_005270171.2:c.3357A>G XP_005270228.1:p.Arg1119=
XM_005270172.3:c.3357A>G XP_005270229.1:p.Arg1119=
XM_011540196.2:c.3471A>G XP_011538498.1:p.Arg1157=
XM_011540197.2:c.3471A>G XP_011538499.1:p.Arg1157=
XM_011540198.2:c.3354A>G XP_011538500.1:p.Arg1118=
XM_011540199.2:c.3354A>G XP_011538501.1:p.Arg1118=
XM_011540200.2:c.3471A>G XP_011538502.1:p.Arg1157=
XM_011540201.2:c.3471A>G XP_011538503.1:p.Arg1157=
XM_011540202.2:c.2700A>G XP_011538504.1:p.Arg900=
XM_017016681.1:c.3468A>G XP_016872170.1:p.Arg1156=
XM_017016682.1:c.3123A>G XP_016872171.1:p.Arg1041=
XM_024448177.1:c.1857A>G XP_024303945.1:p.Arg619=
XM_024448178.1:c.1254A>G XP_024303946.1:p.Arg418=
XR_002957015.1:n.3240A>G
NM_025145.7:c.3354A>G MANE Select NP_079421.5:p.Arg1118=