Canonical Allele Identifier: CA378092022
Gene: CFAP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162042C>A , CM000672.2:g.104162042C>A GRCh38
NC_000010.10:g.105921800C>A , CM000672.1:g.105921800C>A GRCh37
NC_000010.9:g.105911790C>A NCBI36
NG_051581.1:g.75336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3334-1G>T MANE Select ENSP00000349568.3:n.3334-1G>T
ENST00000357060.7:c.3334-1G>T ENSP00000349568.3:n.3334-1G>T
ENST00000434629.5:c.1416-1G>T
NM_025145.5:c.3334-1G>T NP_079421.5:n.3334-1G>T
XM_005270171.1:c.3337-1G>T XP_005270228.1:n.3337-1G>T
XM_005270172.2:c.3337-1G>T XP_005270229.1:n.3337-1G>T
XM_011540196.1:c.3451-1G>T XP_011538498.1:n.3451-1G>T
XM_011540197.1:c.3451-1G>T XP_011538499.1:n.3451-1G>T
XM_011540198.1:c.3334-1G>T XP_011538500.1:n.3334-1G>T
XM_011540199.1:c.3334-1G>T XP_011538501.1:n.3334-1G>T
XM_011540200.1:c.3451-1G>T XP_011538502.1:n.3451-1G>T
XM_011540201.1:c.3451-1G>T XP_011538503.1:n.3451-1G>T
XM_011540202.1:c.2680-1G>T XP_011538504.1:n.2680-1G>T
XM_011540203.1:c.1234-1G>T XP_011538505.1:n.1234-1G>T
NM_025145.6:c.3334-1G>T NP_079421.5:n.3334-1G>T
XM_005270171.2:c.3337-1G>T XP_005270228.1:n.3337-1G>T
XM_005270172.3:c.3337-1G>T XP_005270229.1:n.3337-1G>T
XM_011540196.2:c.3451-1G>T XP_011538498.1:n.3451-1G>T
XM_011540197.2:c.3451-1G>T XP_011538499.1:n.3451-1G>T
XM_011540198.2:c.3334-1G>T XP_011538500.1:n.3334-1G>T
XM_011540199.2:c.3334-1G>T XP_011538501.1:n.3334-1G>T
XM_011540200.2:c.3451-1G>T XP_011538502.1:n.3451-1G>T
XM_011540201.2:c.3451-1G>T XP_011538503.1:n.3451-1G>T
XM_011540202.2:c.2680-1G>T XP_011538504.1:n.2680-1G>T
XM_017016681.1:c.3448-1G>T XP_016872170.1:n.3448-1G>T
XM_017016682.1:c.3103-1G>T XP_016872171.1:n.3103-1G>T
XM_024448177.1:c.1837-1G>T XP_024303945.1:n.1837-1G>T
XM_024448178.1:c.1234-1G>T XP_024303946.1:n.1234-1G>T
XR_002957015.1:n.3220-1G>T
NM_025145.7:c.3334-1G>T MANE Select NP_079421.5:n.3334-1G>T