Canonical Allele Identifier: CA471342202
Gene: CFAP43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105921752A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104161994A>C , CM000672.2:g.104161994A>C GRCh38
NC_000010.10:g.105921752A>C , CM000672.1:g.105921752A>C GRCh37
NC_000010.9:g.105911742A>C NCBI36
NG_051581.1:g.75384T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3381T>G MANE Select ENSP00000349568.3:p.Val1127=
ENST00000357060.7:c.3381T>G ENSP00000349568.3:p.Val1127=
ENST00000434629.5:c.1463T>G
NM_025145.5:c.3381T>G NP_079421.5:p.Val1127=
XM_005270171.1:c.3384T>G XP_005270228.1:p.Val1128=
XM_005270172.2:c.3384T>G XP_005270229.1:p.Val1128=
XM_011540196.1:c.3498T>G XP_011538498.1:p.Val1166=
XM_011540197.1:c.3498T>G XP_011538499.1:p.Val1166=
XM_011540198.1:c.3381T>G XP_011538500.1:p.Val1127=
XM_011540199.1:c.3381T>G XP_011538501.1:p.Val1127=
XM_011540200.1:c.3498T>G XP_011538502.1:p.Val1166=
XM_011540201.1:c.3498T>G XP_011538503.1:p.Val1166=
XM_011540202.1:c.2727T>G XP_011538504.1:p.Val909=
XM_011540203.1:c.1281T>G XP_011538505.1:p.Val427=
NM_025145.6:c.3381T>G NP_079421.5:p.Val1127=
XM_005270171.2:c.3384T>G XP_005270228.1:p.Val1128=
XM_005270172.3:c.3384T>G XP_005270229.1:p.Val1128=
XM_011540196.2:c.3498T>G XP_011538498.1:p.Val1166=
XM_011540197.2:c.3498T>G XP_011538499.1:p.Val1166=
XM_011540198.2:c.3381T>G XP_011538500.1:p.Val1127=
XM_011540199.2:c.3381T>G XP_011538501.1:p.Val1127=
XM_011540200.2:c.3498T>G XP_011538502.1:p.Val1166=
XM_011540201.2:c.3498T>G XP_011538503.1:p.Val1166=
XM_011540202.2:c.2727T>G XP_011538504.1:p.Val909=
XM_017016681.1:c.3495T>G XP_016872170.1:p.Val1165=
XM_017016682.1:c.3150T>G XP_016872171.1:p.Val1050=
XM_024448177.1:c.1884T>G XP_024303945.1:p.Val628=
XM_024448178.1:c.1281T>G XP_024303946.1:p.Val427=
XR_002957015.1:n.3267T>G
NM_025145.7:c.3381T>G MANE Select NP_079421.5:p.Val1127=