Canonical Allele Identifier: CA378092221
Gene: CFAP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162332G>C , CM000672.2:g.104162332G>C GRCh38
NC_000010.10:g.105922090G>C , CM000672.1:g.105922090G>C GRCh37
NC_000010.9:g.105912080G>C NCBI36
NG_051581.1:g.75046C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3318C>G MANE Select ENSP00000349568.3:p.His1106Gln
ENST00000357060.7:c.3318C>G ENSP00000349568.3:p.His1106Gln
ENST00000434629.5:c.1400C>G
NM_025145.5:c.3318C>G NP_079421.5:p.His1106Gln
XM_005270171.1:c.3321C>G XP_005270228.1:p.His1107Gln
XM_005270172.2:c.3321C>G XP_005270229.1:p.His1107Gln
XM_011540196.1:c.3435C>G XP_011538498.1:p.His1145Gln
XM_011540197.1:c.3435C>G XP_011538499.1:p.His1145Gln
XM_011540198.1:c.3318C>G XP_011538500.1:p.His1106Gln
XM_011540199.1:c.3318C>G XP_011538501.1:p.His1106Gln
XM_011540200.1:c.3435C>G XP_011538502.1:p.His1145Gln
XM_011540201.1:c.3435C>G XP_011538503.1:p.His1145Gln
XM_011540202.1:c.2664C>G XP_011538504.1:p.His888Gln
XM_011540203.1:c.1218C>G XP_011538505.1:p.His406Gln
NM_025145.6:c.3318C>G NP_079421.5:p.His1106Gln
XM_005270171.2:c.3321C>G XP_005270228.1:p.His1107Gln
XM_005270172.3:c.3321C>G XP_005270229.1:p.His1107Gln
XM_011540196.2:c.3435C>G XP_011538498.1:p.His1145Gln
XM_011540197.2:c.3435C>G XP_011538499.1:p.His1145Gln
XM_011540198.2:c.3318C>G XP_011538500.1:p.His1106Gln
XM_011540199.2:c.3318C>G XP_011538501.1:p.His1106Gln
XM_011540200.2:c.3435C>G XP_011538502.1:p.His1145Gln
XM_011540201.2:c.3435C>G XP_011538503.1:p.His1145Gln
XM_011540202.2:c.2664C>G XP_011538504.1:p.His888Gln
XM_017016681.1:c.3432C>G XP_016872170.1:p.His1144Gln
XM_017016682.1:c.3087C>G XP_016872171.1:p.His1029Gln
XM_024448177.1:c.1821C>G XP_024303945.1:p.His607Gln
XM_024448178.1:c.1218C>G XP_024303946.1:p.His406Gln
XR_002957015.1:n.3204C>G
NM_025145.7:c.3318C>G MANE Select NP_079421.5:p.His1106Gln