Canonical Allele Identifier: CA2610809412

Gene: CFAP43

Linked Data

• gnomAD v4: 10-104162164-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162164G>A , CM000672.2:g.104162164G>A	GRCh38
NC_000010.10:g.105921922G>A , CM000672.1:g.105921922G>A	GRCh37
NC_000010.9:g.105911912G>A	NCBI36
NG_051581.1:g.75214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3334-123C>T MANE Select	ENSP00000349568.3:n.3334-123C>T
ENST00000357060.7:c.3334-123C>T	ENSP00000349568.3:n.3334-123C>T
ENST00000434629.5:c.1416-123C>T
NM_025145.5:c.3334-123C>T	NP_079421.5:n.3334-123C>T
XM_005270171.1:c.3337-123C>T	XP_005270228.1:n.3337-123C>T
XM_005270172.2:c.3337-123C>T	XP_005270229.1:n.3337-123C>T
XM_011540196.1:c.3451-123C>T	XP_011538498.1:n.3451-123C>T
XM_011540197.1:c.3451-123C>T	XP_011538499.1:n.3451-123C>T
XM_011540198.1:c.3334-123C>T	XP_011538500.1:n.3334-123C>T
XM_011540199.1:c.3334-123C>T	XP_011538501.1:n.3334-123C>T
XM_011540200.1:c.3451-123C>T	XP_011538502.1:n.3451-123C>T
XM_011540201.1:c.3451-123C>T	XP_011538503.1:n.3451-123C>T
XM_011540202.1:c.2680-123C>T	XP_011538504.1:n.2680-123C>T
XM_011540203.1:c.1234-123C>T	XP_011538505.1:n.1234-123C>T
NM_025145.6:c.3334-123C>T	NP_079421.5:n.3334-123C>T
XM_005270171.2:c.3337-123C>T	XP_005270228.1:n.3337-123C>T
XM_005270172.3:c.3337-123C>T	XP_005270229.1:n.3337-123C>T
XM_011540196.2:c.3451-123C>T	XP_011538498.1:n.3451-123C>T
XM_011540197.2:c.3451-123C>T	XP_011538499.1:n.3451-123C>T
XM_011540198.2:c.3334-123C>T	XP_011538500.1:n.3334-123C>T
XM_011540199.2:c.3334-123C>T	XP_011538501.1:n.3334-123C>T
XM_011540200.2:c.3451-123C>T	XP_011538502.1:n.3451-123C>T
XM_011540201.2:c.3451-123C>T	XP_011538503.1:n.3451-123C>T
XM_011540202.2:c.2680-123C>T	XP_011538504.1:n.2680-123C>T
XM_017016681.1:c.3448-123C>T	XP_016872170.1:n.3448-123C>T
XM_017016682.1:c.3103-123C>T	XP_016872171.1:n.3103-123C>T
XM_024448177.1:c.1837-123C>T	XP_024303945.1:n.1837-123C>T
XM_024448178.1:c.1234-123C>T	XP_024303946.1:n.1234-123C>T
XR_002957015.1:n.3220-123C>T
NM_025145.7:c.3334-123C>T MANE Select	NP_079421.5:n.3334-123C>T