Canonical Allele Identifier: CA186268534

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 911879
• ClinVar RCV Id: RCV001164632 ; RCV001571238
• dbSNP Id: rs116329113
• gnomAD v2: 8-133584315-A-G
• gnomAD v3: 8-132572067-A-G
• gnomAD v4: 8-132572067-A-G
• MyVariant Identifiers: chr8:g.133584315A>G (hg19) ; chr8:g.132572067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572067A>G , CM000670.2:g.132572067A>G	GRCh38
NC_000008.10:g.133584315A>G , CM000670.1:g.133584315A>G	GRCh37
NC_000008.9:g.133653497A>G	NCBI36
NG_033068.1:g.108549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*239T>C MANE Select	ENSP00000484634.1:n.*239T>C
ENST00000618342.1:c.1640T>C	ENSP00000484802.1:n.1640T>C
ENST00000620350.4:c.*239T>C	ENSP00000484634.1:n.*239T>C
NM_012472.4:c.*239T>C	NP_036604.2:n.*239T>C
NR_073525.1:n.1864T>C
XM_006716538.2:c.*239T>C	XP_006716601.2:n.*239T>C
XM_011516950.1:c.*239T>C	XP_011515252.1:n.*239T>C
XM_011516952.1:c.*239T>C	XP_011515254.1:n.*239T>C
XM_011516953.1:c.*239T>C	XP_011515255.1:n.*239T>C
XM_011516954.1:c.*239T>C	XP_011515256.1:n.*239T>C
XR_428377.2:n.1892T>C
NM_001321961.1:c.*239T>C	NP_001308890.1:n.*239T>C
NM_001321962.1:c.*239T>C	NP_001308891.1:n.*239T>C
NM_001321963.1:c.*239T>C	NP_001308892.1:n.*239T>C
NM_001321964.1:c.*239T>C	NP_001308893.1:n.*239T>C
NM_001321965.1:c.*239T>C	NP_001308894.1:n.*239T>C
NM_001321966.1:c.*239T>C	NP_001308895.1:n.*239T>C
NM_012472.5:c.*239T>C	NP_036604.2:n.*239T>C
NR_073525.2:n.1864T>C
NR_135905.1:n.1853T>C
NR_135906.1:n.1294T>C
NR_135907.1:n.1540T>C
NR_135908.1:n.1234T>C
NR_135909.1:n.1658T>C
NR_135910.1:n.1965T>C
NR_135911.1:n.2044T>C
NR_135912.1:n.2603T>C
NR_135913.1:n.2290T>C
XM_006716538.3:c.*239T>C	XP_006716601.2:n.*239T>C
XM_011516950.2:c.*239T>C	XP_011515252.1:n.*239T>C
XM_017013296.1:c.*239T>C	XP_016868785.1:n.*239T>C
XM_017013297.1:c.*239T>C	XP_016868786.1:n.*239T>C
XM_017013298.1:c.*239T>C	XP_016868787.1:n.*239T>C
NM_012472.6:c.*239T>C MANE Select	NP_036604.2:n.*239T>C
NM_001321961.2:c.*239T>C	NP_001308890.1:n.*239T>C
NM_001321962.2:c.*239T>C	NP_001308891.1:n.*239T>C
NM_001321963.2:c.*239T>C	NP_001308892.1:n.*239T>C
NM_001321964.2:c.*239T>C	NP_001308893.1:n.*239T>C
NM_001321965.2:c.*239T>C	NP_001308894.1:n.*239T>C
NM_001321966.2:c.*239T>C	NP_001308895.1:n.*239T>C
NR_073525.3:n.1792T>C
NR_135905.2:n.1781T>C
NR_135906.2:n.1222T>C
NR_135907.2:n.1468T>C
NR_135908.2:n.1162T>C
NR_135909.2:n.1678T>C
NR_135910.2:n.2028T>C
NR_135911.2:n.2148T>C
NR_135912.2:n.2707T>C
NR_135913.2:n.2394T>C