Canonical Allele Identifier: CA144829

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 66028
• ClinVar RCV Id: RCV000056271
• dbSNP Id: rs397515461
• ExAC: 8:133645077 G / A
• gnomAD v2: 8-133645077-G-A
• gnomAD v3: 8-132632831-G-A
• gnomAD v4: 8-132632831-G-A
• MyVariant Identifiers: chr8:g.133645077G>A (hg19) ; chr8:g.132632831G>A (hg38)
• PubMed: PMID:23891469

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632831G>A , CM000670.2:g.132632831G>A	GRCh38
NC_000008.10:g.133645077G>A , CM000670.1:g.133645077G>A	GRCh37
NC_000008.9:g.133714259G>A	NCBI36
NG_033068.1:g.47787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.562C>T MANE Select	ENSP00000484634.1:p.Gln188Ter
ENST00000250173.5:c.562C>T	ENSP00000250173.2:p.Gln188Ter
ENST00000518642.5:c.562C>T	ENSP00000428610.1:p.Gln188Ter
ENST00000519595.5:c.562C>T	ENSP00000429791.1:p.Gln188Ter
ENST00000520446.5:n.528+5104C>T
ENST00000523503.1:n.415+5104C>T
ENST00000618342.1:c.562C>T	ENSP00000484802.1:p.Gln188Ter
ENST00000620350.4:c.562C>T	ENSP00000484634.1:p.Gln188Ter
NM_012472.4:c.562C>T	NP_036604.2:p.Gln188Ter
NR_073525.1:n.686C>T
XM_006716538.2:c.580C>T	XP_006716601.2:p.Gln194Ter
XM_011516950.1:c.580C>T	XP_011515252.1:p.Gln194Ter
XM_011516951.1:c.580C>T	XP_011515253.1:p.Gln194Ter
XM_011516952.1:c.316C>T	XP_011515254.1:p.Gln106Ter
XM_011516953.1:c.202C>T	XP_011515255.1:p.Gln68Ter
XM_011516954.1:c.202C>T	XP_011515256.1:p.Gln68Ter
XR_428377.2:n.705C>T
NM_001321961.1:c.562C>T	NP_001308890.1:p.Gln188Ter
NM_001321962.1:c.316C>T	NP_001308891.1:p.Gln106Ter
NM_001321963.1:c.202C>T	NP_001308892.1:p.Gln68Ter
NM_001321964.1:c.202C>T	NP_001308893.1:p.Gln68Ter
NM_001321965.1:c.202C>T	NP_001308894.1:p.Gln68Ter
NM_001321966.1:c.202C>T	NP_001308895.1:p.Gln68Ter
NM_012472.5:c.562C>T	NP_036604.2:p.Gln188Ter
NR_073525.2:n.686C>T
NR_135905.1:n.866+5104C>T
NR_135906.1:n.307+5104C>T
NR_135907.1:n.553+5104C>T
NR_135908.1:n.307+5104C>T
NR_135909.1:n.671+5104C>T
NR_135910.1:n.978+5104C>T
NR_135911.1:n.1057+5104C>T
NR_135912.1:n.1616+5104C>T
NR_135913.1:n.1303+5104C>T
XM_006716538.3:c.580C>T	XP_006716601.2:p.Gln194Ter
XM_011516950.2:c.580C>T	XP_011515252.1:p.Gln194Ter
XM_017013296.1:c.460C>T	XP_016868785.1:p.Gln154Ter
XM_017013297.1:c.202C>T	XP_016868786.1:p.Gln68Ter
XM_017013298.1:c.202C>T	XP_016868787.1:p.Gln68Ter
NM_012472.6:c.562C>T MANE Select	NP_036604.2:p.Gln188Ter
NM_001321961.2:c.562C>T	NP_001308890.1:p.Gln188Ter
NM_001321962.2:c.316C>T	NP_001308891.1:p.Gln106Ter
NM_001321963.2:c.202C>T	NP_001308892.1:p.Gln68Ter
NM_001321964.2:c.202C>T	NP_001308893.1:p.Gln68Ter
NM_001321965.2:c.202C>T	NP_001308894.1:p.Gln68Ter
NM_001321966.2:c.202C>T	NP_001308895.1:p.Gln68Ter
NR_073525.3:n.614C>T
NR_135905.2:n.794+5104C>T
NR_135906.2:n.235+5104C>T
NR_135907.2:n.481+5104C>T
NR_135908.2:n.235+5104C>T
NR_135909.2:n.691+5104C>T
NR_135910.2:n.1041+5104C>T
NR_135911.2:n.1161+5104C>T
NR_135912.2:n.1720+5104C>T
NR_135913.2:n.1407+5104C>T