Canonical Allele Identifier: CA372291949

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 2042268
• ClinVar RCV Id: RCV002895510
• gnomAD v4: 8-132572436-G-A
• MyVariant Identifiers: chr8:g.133584684G>A (hg19) ; chr8:g.132572436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572436G>A , CM000670.2:g.132572436G>A	GRCh38
NC_000008.10:g.133584684G>A , CM000670.1:g.133584684G>A	GRCh37
NC_000008.9:g.133653866G>A	NCBI36
NG_033068.1:g.108180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1271C>T MANE Select	ENSP00000484634.1:p.Ser424Leu
ENST00000250173.5:c.*135C>T	ENSP00000250173.2:n.*135C>T
ENST00000518642.5:c.*135C>T	ENSP00000428610.1:n.*135C>T
ENST00000519595.5:c.1271C>T	ENSP00000429791.1:p.Ser424Leu
ENST00000522597.1:n.540C>T
ENST00000522789.5:c.491C>T	ENSP00000428015.1:p.Ser164Leu
ENST00000618342.1:c.1271C>T	ENSP00000484802.1:p.Ser424Leu
ENST00000620350.4:c.1271C>T	ENSP00000484634.1:p.Ser424Leu
NM_012472.4:c.1271C>T	NP_036604.2:p.Ser424Leu
NR_073525.1:n.1495C>T
XM_006716538.2:c.1289C>T	XP_006716601.2:p.Ser430Leu
XM_011516950.1:c.1229C>T	XP_011515252.1:p.Ser410Leu
XM_011516952.1:c.1025C>T	XP_011515254.1:p.Ser342Leu
XM_011516953.1:c.911C>T	XP_011515255.1:p.Ser304Leu
XM_011516954.1:c.911C>T	XP_011515256.1:p.Ser304Leu
XR_428377.2:n.1523C>T
NM_001321961.1:c.1211C>T	NP_001308890.1:p.Ser404Leu
NM_001321962.1:c.1025C>T	NP_001308891.1:p.Ser342Leu
NM_001321963.1:c.911C>T	NP_001308892.1:p.Ser304Leu
NM_001321964.1:c.911C>T	NP_001308893.1:p.Ser304Leu
NM_001321965.1:c.911C>T	NP_001308894.1:p.Ser304Leu
NM_001321966.1:c.851C>T	NP_001308895.1:p.Ser284Leu
NM_012472.5:c.1271C>T	NP_036604.2:p.Ser424Leu
NR_073525.2:n.1495C>T
NR_135905.1:n.1484C>T
NR_135906.1:n.925C>T
NR_135907.1:n.1171C>T
NR_135908.1:n.865C>T
NR_135909.1:n.1289C>T
NR_135910.1:n.1596C>T
NR_135911.1:n.1675C>T
NR_135912.1:n.2234C>T
NR_135913.1:n.1921C>T
XM_006716538.3:c.1289C>T	XP_006716601.2:p.Ser430Leu
XM_011516950.2:c.1229C>T	XP_011515252.1:p.Ser410Leu
XM_017013296.1:c.1169C>T	XP_016868785.1:p.Ser390Leu
XM_017013297.1:c.911C>T	XP_016868786.1:p.Ser304Leu
XM_017013298.1:c.911C>T	XP_016868787.1:p.Ser304Leu
NM_012472.6:c.1271C>T MANE Select	NP_036604.2:p.Ser424Leu
NM_001321961.2:c.1211C>T	NP_001308890.1:p.Ser404Leu
NM_001321962.2:c.1025C>T	NP_001308891.1:p.Ser342Leu
NM_001321963.2:c.911C>T	NP_001308892.1:p.Ser304Leu
NM_001321964.2:c.911C>T	NP_001308893.1:p.Ser304Leu
NM_001321965.2:c.911C>T	NP_001308894.1:p.Ser304Leu
NM_001321966.2:c.851C>T	NP_001308895.1:p.Ser284Leu
NR_073525.3:n.1423C>T
NR_135905.2:n.1412C>T
NR_135906.2:n.853C>T
NR_135907.2:n.1099C>T
NR_135908.2:n.793C>T
NR_135909.2:n.1309C>T
NR_135910.2:n.1659C>T
NR_135911.2:n.1779C>T
NR_135912.2:n.2338C>T
NR_135913.2:n.2025C>T