Canonical Allele Identifier: CA378092235

Gene: CFAP43

Linked Data

• dbSNP Id: rs2088922673
• gnomAD v3: 10-104162334-G-C
• gnomAD v4: 10-104162334-G-C
• MyVariant Identifiers: chr10:g.105922092G>C (hg19) ; chr10:g.104162334G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162334G>C , CM000672.2:g.104162334G>C	GRCh38
NC_000010.10:g.105922092G>C , CM000672.1:g.105922092G>C	GRCh37
NC_000010.9:g.105912082G>C	NCBI36
NG_051581.1:g.75044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3316C>G MANE Select	ENSP00000349568.3:p.His1106Asp
ENST00000357060.7:c.3316C>G	ENSP00000349568.3:p.His1106Asp
ENST00000434629.5:c.1398C>G
NM_025145.5:c.3316C>G	NP_079421.5:p.His1106Asp
XM_005270171.1:c.3319C>G	XP_005270228.1:p.His1107Asp
XM_005270172.2:c.3319C>G	XP_005270229.1:p.His1107Asp
XM_011540196.1:c.3433C>G	XP_011538498.1:p.His1145Asp
XM_011540197.1:c.3433C>G	XP_011538499.1:p.His1145Asp
XM_011540198.1:c.3316C>G	XP_011538500.1:p.His1106Asp
XM_011540199.1:c.3316C>G	XP_011538501.1:p.His1106Asp
XM_011540200.1:c.3433C>G	XP_011538502.1:p.His1145Asp
XM_011540201.1:c.3433C>G	XP_011538503.1:p.His1145Asp
XM_011540202.1:c.2662C>G	XP_011538504.1:p.His888Asp
XM_011540203.1:c.1216C>G	XP_011538505.1:p.His406Asp
NM_025145.6:c.3316C>G	NP_079421.5:p.His1106Asp
XM_005270171.2:c.3319C>G	XP_005270228.1:p.His1107Asp
XM_005270172.3:c.3319C>G	XP_005270229.1:p.His1107Asp
XM_011540196.2:c.3433C>G	XP_011538498.1:p.His1145Asp
XM_011540197.2:c.3433C>G	XP_011538499.1:p.His1145Asp
XM_011540198.2:c.3316C>G	XP_011538500.1:p.His1106Asp
XM_011540199.2:c.3316C>G	XP_011538501.1:p.His1106Asp
XM_011540200.2:c.3433C>G	XP_011538502.1:p.His1145Asp
XM_011540201.2:c.3433C>G	XP_011538503.1:p.His1145Asp
XM_011540202.2:c.2662C>G	XP_011538504.1:p.His888Asp
XM_017016681.1:c.3430C>G	XP_016872170.1:p.His1144Asp
XM_017016682.1:c.3085C>G	XP_016872171.1:p.His1029Asp
XM_024448177.1:c.1819C>G	XP_024303945.1:p.His607Asp
XM_024448178.1:c.1216C>G	XP_024303946.1:p.His406Asp
XR_002957015.1:n.3202C>G
NM_025145.7:c.3316C>G MANE Select	NP_079421.5:p.His1106Asp