Canonical Allele Identifier: CA471342184
Gene: CFAP43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105921743G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104161985G>C , CM000672.2:g.104161985G>C GRCh38
NC_000010.10:g.105921743G>C , CM000672.1:g.105921743G>C GRCh37
NC_000010.9:g.105911733G>C NCBI36
NG_051581.1:g.75393C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3390C>G MANE Select ENSP00000349568.3:p.Val1130=
ENST00000357060.7:c.3390C>G ENSP00000349568.3:p.Val1130=
ENST00000434629.5:c.1472C>G
NM_025145.5:c.3390C>G NP_079421.5:p.Val1130=
XM_005270171.1:c.3393C>G XP_005270228.1:p.Val1131=
XM_005270172.2:c.3393C>G XP_005270229.1:p.Val1131=
XM_011540196.1:c.3507C>G XP_011538498.1:p.Val1169=
XM_011540197.1:c.3507C>G XP_011538499.1:p.Val1169=
XM_011540198.1:c.3390C>G XP_011538500.1:p.Val1130=
XM_011540199.1:c.3390C>G XP_011538501.1:p.Val1130=
XM_011540200.1:c.3507C>G XP_011538502.1:p.Val1169=
XM_011540201.1:c.3507C>G XP_011538503.1:p.Val1169=
XM_011540202.1:c.2736C>G XP_011538504.1:p.Val912=
XM_011540203.1:c.1290C>G XP_011538505.1:p.Val430=
NM_025145.6:c.3390C>G NP_079421.5:p.Val1130=
XM_005270171.2:c.3393C>G XP_005270228.1:p.Val1131=
XM_005270172.3:c.3393C>G XP_005270229.1:p.Val1131=
XM_011540196.2:c.3507C>G XP_011538498.1:p.Val1169=
XM_011540197.2:c.3507C>G XP_011538499.1:p.Val1169=
XM_011540198.2:c.3390C>G XP_011538500.1:p.Val1130=
XM_011540199.2:c.3390C>G XP_011538501.1:p.Val1130=
XM_011540200.2:c.3507C>G XP_011538502.1:p.Val1169=
XM_011540201.2:c.3507C>G XP_011538503.1:p.Val1169=
XM_011540202.2:c.2736C>G XP_011538504.1:p.Val912=
XM_017016681.1:c.3504C>G XP_016872170.1:p.Val1168=
XM_017016682.1:c.3159C>G XP_016872171.1:p.Val1053=
XM_024448177.1:c.1893C>G XP_024303945.1:p.Val631=
XM_024448178.1:c.1290C>G XP_024303946.1:p.Val430=
XR_002957015.1:n.3276C>G
NM_025145.7:c.3390C>G MANE Select NP_079421.5:p.Val1130=