Canonical Allele Identifier: CA4881073

Gene: DNAAF11

Linked Data

• dbSNP Id: rs749984059
• ExAC: 8:133584569 C / G
• gnomAD v2: 8-133584569-C-G
• MyVariant Identifiers: chr8:g.133584569C>G (hg19) ; chr8:g.132572321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572321C>G , CM000670.2:g.132572321C>G	GRCh38
NC_000008.10:g.133584569C>G , CM000670.1:g.133584569C>G	GRCh37
NC_000008.9:g.133653751C>G	NCBI36
NG_033068.1:g.108295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1386G>C MANE Select	ENSP00000484634.1:p.Val462=
ENST00000250173.5:c.*250G>C	ENSP00000250173.2:n.*250G>C
ENST00000518642.5:c.*250G>C	ENSP00000428610.1:n.*250G>C
ENST00000519595.5:c.1386G>C	ENSP00000429791.1:p.Val462=
ENST00000522789.5:c.606G>C	ENSP00000428015.1:p.Val202=
ENST00000618342.1:c.1386G>C	ENSP00000484802.1:p.Val462=
ENST00000620350.4:c.1386G>C	ENSP00000484634.1:p.Val462=
NM_012472.4:c.1386G>C	NP_036604.2:p.Val462=
NR_073525.1:n.1610G>C
XM_006716538.2:c.1404G>C	XP_006716601.2:p.Val468=
XM_011516950.1:c.1344G>C	XP_011515252.1:p.Val448=
XM_011516952.1:c.1140G>C	XP_011515254.1:p.Val380=
XM_011516953.1:c.1026G>C	XP_011515255.1:p.Val342=
XM_011516954.1:c.1026G>C	XP_011515256.1:p.Val342=
XR_428377.2:n.1638G>C
NM_001321961.1:c.1326G>C	NP_001308890.1:p.Val442=
NM_001321962.1:c.1140G>C	NP_001308891.1:p.Val380=
NM_001321963.1:c.1026G>C	NP_001308892.1:p.Val342=
NM_001321964.1:c.1026G>C	NP_001308893.1:p.Val342=
NM_001321965.1:c.1026G>C	NP_001308894.1:p.Val342=
NM_001321966.1:c.966G>C	NP_001308895.1:p.Val322=
NM_012472.5:c.1386G>C	NP_036604.2:p.Val462=
NR_073525.2:n.1610G>C
NR_135905.1:n.1599G>C
NR_135906.1:n.1040G>C
NR_135907.1:n.1286G>C
NR_135908.1:n.980G>C
NR_135909.1:n.1404G>C
NR_135910.1:n.1711G>C
NR_135911.1:n.1790G>C
NR_135912.1:n.2349G>C
NR_135913.1:n.2036G>C
XM_006716538.3:c.1404G>C	XP_006716601.2:p.Val468=
XM_011516950.2:c.1344G>C	XP_011515252.1:p.Val448=
XM_017013296.1:c.1284G>C	XP_016868785.1:p.Val428=
XM_017013297.1:c.1026G>C	XP_016868786.1:p.Val342=
XM_017013298.1:c.1026G>C	XP_016868787.1:p.Val342=
NM_012472.6:c.1386G>C MANE Select	NP_036604.2:p.Val462=
NM_001321961.2:c.1326G>C	NP_001308890.1:p.Val442=
NM_001321962.2:c.1140G>C	NP_001308891.1:p.Val380=
NM_001321963.2:c.1026G>C	NP_001308892.1:p.Val342=
NM_001321964.2:c.1026G>C	NP_001308893.1:p.Val342=
NM_001321965.2:c.1026G>C	NP_001308894.1:p.Val342=
NM_001321966.2:c.966G>C	NP_001308895.1:p.Val322=
NR_073525.3:n.1538G>C
NR_135905.2:n.1527G>C
NR_135906.2:n.968G>C
NR_135907.2:n.1214G>C
NR_135908.2:n.908G>C
NR_135909.2:n.1424G>C
NR_135910.2:n.1774G>C
NR_135911.2:n.1894G>C
NR_135912.2:n.2453G>C
NR_135913.2:n.2140G>C