Canonical Allele Identifier: CA1139660761

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 911880
• ClinVar RCV Id: RCV001164633
• dbSNP Id: rs1814250341

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572109G>C , CM000670.2:g.132572109G>C	GRCh38
NC_000008.10:g.133584357G>C , CM000670.1:g.133584357G>C	GRCh37
NC_000008.9:g.133653539G>C	NCBI36
NG_033068.1:g.108507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*197C>G MANE Select	ENSP00000484634.1:n.*197C>G
ENST00000519595.5:c.*197C>G	ENSP00000429791.1:n.*197C>G
ENST00000618342.1:c.1598C>G	ENSP00000484802.1:n.1598C>G
ENST00000620350.4:c.*197C>G	ENSP00000484634.1:n.*197C>G
NM_012472.4:c.*197C>G	NP_036604.2:n.*197C>G
NR_073525.1:n.1822C>G
XM_006716538.2:c.*197C>G	XP_006716601.2:n.*197C>G
XM_011516950.1:c.*197C>G	XP_011515252.1:n.*197C>G
XM_011516952.1:c.*197C>G	XP_011515254.1:n.*197C>G
XM_011516953.1:c.*197C>G	XP_011515255.1:n.*197C>G
XM_011516954.1:c.*197C>G	XP_011515256.1:n.*197C>G
XR_428377.2:n.1850C>G
NM_001321961.1:c.*197C>G	NP_001308890.1:n.*197C>G
NM_001321962.1:c.*197C>G	NP_001308891.1:n.*197C>G
NM_001321963.1:c.*197C>G	NP_001308892.1:n.*197C>G
NM_001321964.1:c.*197C>G	NP_001308893.1:n.*197C>G
NM_001321965.1:c.*197C>G	NP_001308894.1:n.*197C>G
NM_001321966.1:c.*197C>G	NP_001308895.1:n.*197C>G
NM_012472.5:c.*197C>G	NP_036604.2:n.*197C>G
NR_073525.2:n.1822C>G
NR_135905.1:n.1811C>G
NR_135906.1:n.1252C>G
NR_135907.1:n.1498C>G
NR_135908.1:n.1192C>G
NR_135909.1:n.1616C>G
NR_135910.1:n.1923C>G
NR_135911.1:n.2002C>G
NR_135912.1:n.2561C>G
NR_135913.1:n.2248C>G
XM_006716538.3:c.*197C>G	XP_006716601.2:n.*197C>G
XM_011516950.2:c.*197C>G	XP_011515252.1:n.*197C>G
XM_017013296.1:c.*197C>G	XP_016868785.1:n.*197C>G
XM_017013297.1:c.*197C>G	XP_016868786.1:n.*197C>G
XM_017013298.1:c.*197C>G	XP_016868787.1:n.*197C>G
NM_012472.6:c.*197C>G MANE Select	NP_036604.2:n.*197C>G
NM_001321961.2:c.*197C>G	NP_001308890.1:n.*197C>G
NM_001321962.2:c.*197C>G	NP_001308891.1:n.*197C>G
NM_001321963.2:c.*197C>G	NP_001308892.1:n.*197C>G
NM_001321964.2:c.*197C>G	NP_001308893.1:n.*197C>G
NM_001321965.2:c.*197C>G	NP_001308894.1:n.*197C>G
NM_001321966.2:c.*197C>G	NP_001308895.1:n.*197C>G
NR_073525.3:n.1750C>G
NR_135905.2:n.1739C>G
NR_135906.2:n.1180C>G
NR_135907.2:n.1426C>G
NR_135908.2:n.1120C>G
NR_135909.2:n.1636C>G
NR_135910.2:n.1986C>G
NR_135911.2:n.2106C>G
NR_135912.2:n.2665C>G
NR_135913.2:n.2352C>G