Canonical Allele Identifier: CA4881080

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 1968320
• ClinVar RCV Id: RCV002755158
• dbSNP Id: rs758116681
• ExAC: 8:133584630 C / T
• gnomAD v2: 8-133584630-C-T
• gnomAD v3: 8-132572382-C-T
• gnomAD v4: 8-132572382-C-T
• COSMIC: COSM212420
• MyVariant Identifiers: chr8:g.133584630C>T (hg19) ; chr8:g.132572382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572382C>T , CM000670.2:g.132572382C>T	GRCh38
NC_000008.10:g.133584630C>T , CM000670.1:g.133584630C>T	GRCh37
NC_000008.9:g.133653812C>T	NCBI36
NG_033068.1:g.108234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1325G>A MANE Select	ENSP00000484634.1:p.Arg442Gln
ENST00000250173.5:c.*189G>A	ENSP00000250173.2:n.*189G>A
ENST00000518642.5:c.*189G>A	ENSP00000428610.1:n.*189G>A
ENST00000519595.5:c.1325G>A	ENSP00000429791.1:p.Arg442Gln
ENST00000522789.5:c.545G>A	ENSP00000428015.1:p.Arg182Gln
ENST00000618342.1:c.1325G>A	ENSP00000484802.1:p.Arg442Gln
ENST00000620350.4:c.1325G>A	ENSP00000484634.1:p.Arg442Gln
NM_012472.4:c.1325G>A	NP_036604.2:p.Arg442Gln
NR_073525.1:n.1549G>A
XM_006716538.2:c.1343G>A	XP_006716601.2:p.Arg448Gln
XM_011516950.1:c.1283G>A	XP_011515252.1:p.Arg428Gln
XM_011516952.1:c.1079G>A	XP_011515254.1:p.Arg360Gln
XM_011516953.1:c.965G>A	XP_011515255.1:p.Arg322Gln
XM_011516954.1:c.965G>A	XP_011515256.1:p.Arg322Gln
XR_428377.2:n.1577G>A
NM_001321961.1:c.1265G>A	NP_001308890.1:p.Arg422Gln
NM_001321962.1:c.1079G>A	NP_001308891.1:p.Arg360Gln
NM_001321963.1:c.965G>A	NP_001308892.1:p.Arg322Gln
NM_001321964.1:c.965G>A	NP_001308893.1:p.Arg322Gln
NM_001321965.1:c.965G>A	NP_001308894.1:p.Arg322Gln
NM_001321966.1:c.905G>A	NP_001308895.1:p.Arg302Gln
NM_012472.5:c.1325G>A	NP_036604.2:p.Arg442Gln
NR_073525.2:n.1549G>A
NR_135905.1:n.1538G>A
NR_135906.1:n.979G>A
NR_135907.1:n.1225G>A
NR_135908.1:n.919G>A
NR_135909.1:n.1343G>A
NR_135910.1:n.1650G>A
NR_135911.1:n.1729G>A
NR_135912.1:n.2288G>A
NR_135913.1:n.1975G>A
XM_006716538.3:c.1343G>A	XP_006716601.2:p.Arg448Gln
XM_011516950.2:c.1283G>A	XP_011515252.1:p.Arg428Gln
XM_017013296.1:c.1223G>A	XP_016868785.1:p.Arg408Gln
XM_017013297.1:c.965G>A	XP_016868786.1:p.Arg322Gln
XM_017013298.1:c.965G>A	XP_016868787.1:p.Arg322Gln
NM_012472.6:c.1325G>A MANE Select	NP_036604.2:p.Arg442Gln
NM_001321961.2:c.1265G>A	NP_001308890.1:p.Arg422Gln
NM_001321962.2:c.1079G>A	NP_001308891.1:p.Arg360Gln
NM_001321963.2:c.965G>A	NP_001308892.1:p.Arg322Gln
NM_001321964.2:c.965G>A	NP_001308893.1:p.Arg322Gln
NM_001321965.2:c.965G>A	NP_001308894.1:p.Arg322Gln
NM_001321966.2:c.905G>A	NP_001308895.1:p.Arg302Gln
NR_073525.3:n.1477G>A
NR_135905.2:n.1466G>A
NR_135906.2:n.907G>A
NR_135907.2:n.1153G>A
NR_135908.2:n.847G>A
NR_135909.2:n.1363G>A
NR_135910.2:n.1713G>A
NR_135911.2:n.1833G>A
NR_135912.2:n.2392G>A
NR_135913.2:n.2079G>A