Canonical Allele Identifier: CA212451047
Gene: CFAP43 HGNC NCBI
dbSNP:
515910
gnomAD v2:
10:105966404 A / G
gnomAD v3:
10:104206646 A / G
gnomAD v4:
chr10-104206646-A-G
Joint Max Group AF 0.64506716 (AFR)
Genomes Max Group AF 0.64506716 (AFR)
MyVariant.info:
GRCh38 chr10:g.104206646A>G
GRCh37 chr10:g.105966404A>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104206646A>G , CM000672.2:g.104206646A>G GRCh38
NC_000010.10:g.105966404A>G , CM000672.1:g.105966404A>G GRCh37
NC_000010.9:g.105956394A>G NCBI36
NG_051581.1:g.30732T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278064.7:c.896-613T>C ENSP00000278064.3:n.896-613T>C
ENST00000357060.8:c.896-616T>C MANE Select ENSP00000349568.3:n.896-616T>C
ENST00000369719.2:c.896-613T>C ENSP00000358733.2:n.896-613T>C
ENST00000369720.6:c.896-613T>C ENSP00000358734.2:n.896-613T>C
ENST00000278064.6:c.686-613T>C ENSP00000278064.2:n.686-613T>C
ENST00000357060.7:c.896-616T>C ENSP00000349568.3:n.896-616T>C
ENST00000369719.1:c.686-613T>C ENSP00000358733.1:n.686-613T>C
ENST00000369720.5:c.686-613T>C ENSP00000358734.1:n.686-613T>C
NM_025145.5:c.896-616T>C NP_079421.5:n.896-616T>C
XM_005270171.1:c.896-613T>C XP_005270228.1:n.896-613T>C
XM_005270172.2:c.896-613T>C XP_005270229.1:n.896-613T>C
XM_011540196.1:c.896-613T>C XP_011538498.1:n.896-613T>C
XM_011540197.1:c.896-613T>C XP_011538499.1:n.896-613T>C
XM_011540198.1:c.896-613T>C XP_011538500.1:n.896-613T>C
XM_011540199.1:c.896-613T>C XP_011538501.1:n.896-613T>C
XM_011540200.1:c.896-613T>C XP_011538502.1:n.896-613T>C
XM_011540201.1:c.896-613T>C XP_011538503.1:n.896-613T>C
XM_011540202.1:c.125-613T>C XP_011538504.1:n.125-613T>C
NM_025145.6:c.896-616T>C NP_079421.5:n.896-616T>C
XM_005270171.2:c.896-613T>C XP_005270228.1:n.896-613T>C
XM_005270172.3:c.896-613T>C XP_005270229.1:n.896-613T>C
XM_011540196.2:c.896-613T>C XP_011538498.1:n.896-613T>C
XM_011540197.2:c.896-613T>C XP_011538499.1:n.896-613T>C
XM_011540198.2:c.896-613T>C XP_011538500.1:n.896-613T>C
XM_011540199.2:c.896-613T>C XP_011538501.1:n.896-613T>C
XM_011540200.2:c.896-613T>C XP_011538502.1:n.896-613T>C
XM_011540201.2:c.896-613T>C XP_011538503.1:n.896-613T>C
XM_011540202.2:c.125-613T>C XP_011538504.1:n.125-613T>C
XM_017016681.1:c.896-616T>C XP_016872170.1:n.896-616T>C
XM_017016682.1:c.896-613T>C XP_016872171.1:n.896-613T>C
XM_017016684.1:c.896-613T>C XP_016872173.1:n.896-613T>C
XR_002957015.1:n.779-613T>C
NM_025145.7:c.896-616T>C MANE Select NP_079421.5:n.896-616T>C
Search 100 bp 5'
Search 100 bp 3'