Canonical Allele Identifier: CA378092148

Gene: CFAP43

Linked Data

• gnomAD v4: 10-104162319-G-T
• MyVariant Identifiers: chr10:g.105922077G>T (hg19) ; chr10:g.104162319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162319G>T , CM000672.2:g.104162319G>T	GRCh38
NC_000010.10:g.105922077G>T , CM000672.1:g.105922077G>T	GRCh37
NC_000010.9:g.105912067G>T	NCBI36
NG_051581.1:g.75059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3331C>A MANE Select	ENSP00000349568.3:p.Gln1111Lys
ENST00000357060.7:c.3331C>A	ENSP00000349568.3:p.Gln1111Lys
ENST00000434629.5:c.1413C>A
NM_025145.5:c.3331C>A	NP_079421.5:p.Gln1111Lys
XM_005270171.1:c.3334C>A	XP_005270228.1:p.Gln1112Lys
XM_005270172.2:c.3334C>A	XP_005270229.1:p.Gln1112Lys
XM_011540196.1:c.3448C>A	XP_011538498.1:p.Gln1150Lys
XM_011540197.1:c.3448C>A	XP_011538499.1:p.Gln1150Lys
XM_011540198.1:c.3331C>A	XP_011538500.1:p.Gln1111Lys
XM_011540199.1:c.3331C>A	XP_011538501.1:p.Gln1111Lys
XM_011540200.1:c.3448C>A	XP_011538502.1:p.Gln1150Lys
XM_011540201.1:c.3448C>A	XP_011538503.1:p.Gln1150Lys
XM_011540202.1:c.2677C>A	XP_011538504.1:p.Gln893Lys
XM_011540203.1:c.1231C>A	XP_011538505.1:p.Gln411Lys
NM_025145.6:c.3331C>A	NP_079421.5:p.Gln1111Lys
XM_005270171.2:c.3334C>A	XP_005270228.1:p.Gln1112Lys
XM_005270172.3:c.3334C>A	XP_005270229.1:p.Gln1112Lys
XM_011540196.2:c.3448C>A	XP_011538498.1:p.Gln1150Lys
XM_011540197.2:c.3448C>A	XP_011538499.1:p.Gln1150Lys
XM_011540198.2:c.3331C>A	XP_011538500.1:p.Gln1111Lys
XM_011540199.2:c.3331C>A	XP_011538501.1:p.Gln1111Lys
XM_011540200.2:c.3448C>A	XP_011538502.1:p.Gln1150Lys
XM_011540201.2:c.3448C>A	XP_011538503.1:p.Gln1150Lys
XM_011540202.2:c.2677C>A	XP_011538504.1:p.Gln893Lys
XM_017016681.1:c.3445C>A	XP_016872170.1:p.Gln1149Lys
XM_017016682.1:c.3100C>A	XP_016872171.1:p.Gln1034Lys
XM_024448177.1:c.1834C>A	XP_024303945.1:p.Gln612Lys
XM_024448178.1:c.1231C>A	XP_024303946.1:p.Gln411Lys
XR_002957015.1:n.3217C>A
NM_025145.7:c.3331C>A MANE Select	NP_079421.5:p.Gln1111Lys