Canonical Allele Identifier: CA5680348

Gene: CFAP43

Linked Data

• dbSNP Id: rs775766672
• ExAC: 10:105922075 C / T
• gnomAD v2: 10-105922075-C-T
• gnomAD v4: 10-104162317-C-T
• MyVariant Identifiers: chr10:g.105922075C>T (hg19) ; chr10:g.104162317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162317C>T , CM000672.2:g.104162317C>T	GRCh38
NC_000010.10:g.105922075C>T , CM000672.1:g.105922075C>T	GRCh37
NC_000010.9:g.105912065C>T	NCBI36
NG_051581.1:g.75061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3333G>A MANE Select	ENSP00000349568.3:p.Gln1111=
ENST00000357060.7:c.3333G>A	ENSP00000349568.3:p.Gln1111=
ENST00000434629.5:c.1415G>A
NM_025145.5:c.3333G>A	NP_079421.5:p.Gln1111=
XM_005270171.1:c.3336G>A	XP_005270228.1:p.Gln1112=
XM_005270172.2:c.3336G>A	XP_005270229.1:p.Gln1112=
XM_011540196.1:c.3450G>A	XP_011538498.1:p.Gln1150=
XM_011540197.1:c.3450G>A	XP_011538499.1:p.Gln1150=
XM_011540198.1:c.3333G>A	XP_011538500.1:p.Gln1111=
XM_011540199.1:c.3333G>A	XP_011538501.1:p.Gln1111=
XM_011540200.1:c.3450G>A	XP_011538502.1:p.Gln1150=
XM_011540201.1:c.3450G>A	XP_011538503.1:p.Gln1150=
XM_011540202.1:c.2679G>A	XP_011538504.1:p.Gln893=
XM_011540203.1:c.1233G>A	XP_011538505.1:p.Gln411=
NM_025145.6:c.3333G>A	NP_079421.5:p.Gln1111=
XM_005270171.2:c.3336G>A	XP_005270228.1:p.Gln1112=
XM_005270172.3:c.3336G>A	XP_005270229.1:p.Gln1112=
XM_011540196.2:c.3450G>A	XP_011538498.1:p.Gln1150=
XM_011540197.2:c.3450G>A	XP_011538499.1:p.Gln1150=
XM_011540198.2:c.3333G>A	XP_011538500.1:p.Gln1111=
XM_011540199.2:c.3333G>A	XP_011538501.1:p.Gln1111=
XM_011540200.2:c.3450G>A	XP_011538502.1:p.Gln1150=
XM_011540201.2:c.3450G>A	XP_011538503.1:p.Gln1150=
XM_011540202.2:c.2679G>A	XP_011538504.1:p.Gln893=
XM_017016681.1:c.3447G>A	XP_016872170.1:p.Gln1149=
XM_017016682.1:c.3102G>A	XP_016872171.1:p.Gln1034=
XM_024448177.1:c.1836G>A	XP_024303945.1:p.Gln612=
XM_024448178.1:c.1233G>A	XP_024303946.1:p.Gln411=
XR_002957015.1:n.3219G>A
NM_025145.7:c.3333G>A MANE Select	NP_079421.5:p.Gln1111=