Canonical Allele Identifier: CA2610809102

Gene: CFAP43

Linked Data

• gnomAD v4: 10-104161946-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104161946G>T , CM000672.2:g.104161946G>T	GRCh38
NC_000010.10:g.105921704G>T , CM000672.1:g.105921704G>T	GRCh37
NC_000010.9:g.105911694G>T	NCBI36
NG_051581.1:g.75432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3414+15C>A MANE Select	ENSP00000349568.3:n.3414+15C>A
ENST00000357060.7:c.3414+15C>A	ENSP00000349568.3:n.3414+15C>A
ENST00000434629.5:c.1496+15C>A
NM_025145.5:c.3414+15C>A	NP_079421.5:n.3414+15C>A
XM_005270171.1:c.3417+15C>A	XP_005270228.1:n.3417+15C>A
XM_005270172.2:c.3417+15C>A	XP_005270229.1:n.3417+15C>A
XM_011540196.1:c.3531+15C>A	XP_011538498.1:n.3531+15C>A
XM_011540197.1:c.3531+15C>A	XP_011538499.1:n.3531+15C>A
XM_011540198.1:c.3414+15C>A	XP_011538500.1:n.3414+15C>A
XM_011540199.1:c.3414+15C>A	XP_011538501.1:n.3414+15C>A
XM_011540200.1:c.3531+15C>A	XP_011538502.1:n.3531+15C>A
XM_011540201.1:c.3531+15C>A	XP_011538503.1:n.3531+15C>A
XM_011540202.1:c.2760+15C>A	XP_011538504.1:n.2760+15C>A
XM_011540203.1:c.1314+15C>A	XP_011538505.1:n.1314+15C>A
NM_025145.6:c.3414+15C>A	NP_079421.5:n.3414+15C>A
XM_005270171.2:c.3417+15C>A	XP_005270228.1:n.3417+15C>A
XM_005270172.3:c.3417+15C>A	XP_005270229.1:n.3417+15C>A
XM_011540196.2:c.3531+15C>A	XP_011538498.1:n.3531+15C>A
XM_011540197.2:c.3531+15C>A	XP_011538499.1:n.3531+15C>A
XM_011540198.2:c.3414+15C>A	XP_011538500.1:n.3414+15C>A
XM_011540199.2:c.3414+15C>A	XP_011538501.1:n.3414+15C>A
XM_011540200.2:c.3531+15C>A	XP_011538502.1:n.3531+15C>A
XM_011540201.2:c.3531+15C>A	XP_011538503.1:n.3531+15C>A
XM_011540202.2:c.2760+15C>A	XP_011538504.1:n.2760+15C>A
XM_017016681.1:c.3528+15C>A	XP_016872170.1:n.3528+15C>A
XM_017016682.1:c.3183+15C>A	XP_016872171.1:n.3183+15C>A
XM_024448177.1:c.1917+15C>A	XP_024303945.1:n.1917+15C>A
XM_024448178.1:c.1314+15C>A	XP_024303946.1:n.1314+15C>A
XR_002957015.1:n.3300+15C>A
NM_025145.7:c.3414+15C>A MANE Select	NP_079421.5:n.3414+15C>A