Canonical Allele Identifier: CA4881088

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 2756519
• ClinVar RCV Id: RCV003536873
• dbSNP Id: rs763386182
• ExAC: 8:133584683 T / C
• gnomAD v2: 8-133584683-T-C
• gnomAD v4: 8-132572435-T-C
• MyVariant Identifiers: chr8:g.133584683T>C (hg19) ; chr8:g.132572435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572435T>C , CM000670.2:g.132572435T>C	GRCh38
NC_000008.10:g.133584683T>C , CM000670.1:g.133584683T>C	GRCh37
NC_000008.9:g.133653865T>C	NCBI36
NG_033068.1:g.108181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1272A>G MANE Select	ENSP00000484634.1:p.Ser424=
ENST00000250173.5:c.*136A>G	ENSP00000250173.2:n.*136A>G
ENST00000518642.5:c.*136A>G	ENSP00000428610.1:n.*136A>G
ENST00000519595.5:c.1272A>G	ENSP00000429791.1:p.Ser424=
ENST00000522597.1:n.541A>G
ENST00000522789.5:c.492A>G	ENSP00000428015.1:p.Ser164=
ENST00000618342.1:c.1272A>G	ENSP00000484802.1:p.Ser424=
ENST00000620350.4:c.1272A>G	ENSP00000484634.1:p.Ser424=
NM_012472.4:c.1272A>G	NP_036604.2:p.Ser424=
NR_073525.1:n.1496A>G
XM_006716538.2:c.1290A>G	XP_006716601.2:p.Ser430=
XM_011516950.1:c.1230A>G	XP_011515252.1:p.Ser410=
XM_011516952.1:c.1026A>G	XP_011515254.1:p.Ser342=
XM_011516953.1:c.912A>G	XP_011515255.1:p.Ser304=
XM_011516954.1:c.912A>G	XP_011515256.1:p.Ser304=
XR_428377.2:n.1524A>G
NM_001321961.1:c.1212A>G	NP_001308890.1:p.Ser404=
NM_001321962.1:c.1026A>G	NP_001308891.1:p.Ser342=
NM_001321963.1:c.912A>G	NP_001308892.1:p.Ser304=
NM_001321964.1:c.912A>G	NP_001308893.1:p.Ser304=
NM_001321965.1:c.912A>G	NP_001308894.1:p.Ser304=
NM_001321966.1:c.852A>G	NP_001308895.1:p.Ser284=
NM_012472.5:c.1272A>G	NP_036604.2:p.Ser424=
NR_073525.2:n.1496A>G
NR_135905.1:n.1485A>G
NR_135906.1:n.926A>G
NR_135907.1:n.1172A>G
NR_135908.1:n.866A>G
NR_135909.1:n.1290A>G
NR_135910.1:n.1597A>G
NR_135911.1:n.1676A>G
NR_135912.1:n.2235A>G
NR_135913.1:n.1922A>G
XM_006716538.3:c.1290A>G	XP_006716601.2:p.Ser430=
XM_011516950.2:c.1230A>G	XP_011515252.1:p.Ser410=
XM_017013296.1:c.1170A>G	XP_016868785.1:p.Ser390=
XM_017013297.1:c.912A>G	XP_016868786.1:p.Ser304=
XM_017013298.1:c.912A>G	XP_016868787.1:p.Ser304=
NM_012472.6:c.1272A>G MANE Select	NP_036604.2:p.Ser424=
NM_001321961.2:c.1212A>G	NP_001308890.1:p.Ser404=
NM_001321962.2:c.1026A>G	NP_001308891.1:p.Ser342=
NM_001321963.2:c.912A>G	NP_001308892.1:p.Ser304=
NM_001321964.2:c.912A>G	NP_001308893.1:p.Ser304=
NM_001321965.2:c.912A>G	NP_001308894.1:p.Ser304=
NM_001321966.2:c.852A>G	NP_001308895.1:p.Ser284=
NR_073525.3:n.1424A>G
NR_135905.2:n.1413A>G
NR_135906.2:n.854A>G
NR_135907.2:n.1100A>G
NR_135908.2:n.794A>G
NR_135909.2:n.1310A>G
NR_135910.2:n.1660A>G
NR_135911.2:n.1780A>G
NR_135912.2:n.2339A>G
NR_135913.2:n.2026A>G