Canonical Allele Identifier: CA372292033

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1814307201
• gnomAD v3: 8-132572472-T-C
• gnomAD v4: 8-132572472-T-C
• MyVariant Identifiers: chr8:g.133584720T>C (hg19) ; chr8:g.132572472T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572472T>C , CM000670.2:g.132572472T>C	GRCh38
NC_000008.10:g.133584720T>C , CM000670.1:g.133584720T>C	GRCh37
NC_000008.9:g.133653902T>C	NCBI36
NG_033068.1:g.108144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1235A>G MANE Select	ENSP00000484634.1:p.His412Arg
ENST00000250173.5:c.*99A>G	ENSP00000250173.2:n.*99A>G
ENST00000518642.5:c.*99A>G	ENSP00000428610.1:n.*99A>G
ENST00000519595.5:c.1235A>G	ENSP00000429791.1:p.His412Arg
ENST00000522597.1:n.504A>G
ENST00000522789.5:c.455A>G	ENSP00000428015.1:p.His152Arg
ENST00000618342.1:c.1235A>G	ENSP00000484802.1:p.His412Arg
ENST00000620350.4:c.1235A>G	ENSP00000484634.1:p.His412Arg
NM_012472.4:c.1235A>G	NP_036604.2:p.His412Arg
NR_073525.1:n.1459A>G
XM_006716538.2:c.1253A>G	XP_006716601.2:p.His418Arg
XM_011516950.1:c.1193A>G	XP_011515252.1:p.His398Arg
XM_011516952.1:c.989A>G	XP_011515254.1:p.His330Arg
XM_011516953.1:c.875A>G	XP_011515255.1:p.His292Arg
XM_011516954.1:c.875A>G	XP_011515256.1:p.His292Arg
XR_428377.2:n.1487A>G
NM_001321961.1:c.1175A>G	NP_001308890.1:p.His392Arg
NM_001321962.1:c.989A>G	NP_001308891.1:p.His330Arg
NM_001321963.1:c.875A>G	NP_001308892.1:p.His292Arg
NM_001321964.1:c.875A>G	NP_001308893.1:p.His292Arg
NM_001321965.1:c.875A>G	NP_001308894.1:p.His292Arg
NM_001321966.1:c.815A>G	NP_001308895.1:p.His272Arg
NM_012472.5:c.1235A>G	NP_036604.2:p.His412Arg
NR_073525.2:n.1459A>G
NR_135905.1:n.1448A>G
NR_135906.1:n.889A>G
NR_135907.1:n.1135A>G
NR_135908.1:n.829A>G
NR_135909.1:n.1253A>G
NR_135910.1:n.1560A>G
NR_135911.1:n.1639A>G
NR_135912.1:n.2198A>G
NR_135913.1:n.1885A>G
XM_006716538.3:c.1253A>G	XP_006716601.2:p.His418Arg
XM_011516950.2:c.1193A>G	XP_011515252.1:p.His398Arg
XM_017013296.1:c.1133A>G	XP_016868785.1:p.His378Arg
XM_017013297.1:c.875A>G	XP_016868786.1:p.His292Arg
XM_017013298.1:c.875A>G	XP_016868787.1:p.His292Arg
NM_012472.6:c.1235A>G MANE Select	NP_036604.2:p.His412Arg
NM_001321961.2:c.1175A>G	NP_001308890.1:p.His392Arg
NM_001321962.2:c.989A>G	NP_001308891.1:p.His330Arg
NM_001321963.2:c.875A>G	NP_001308892.1:p.His292Arg
NM_001321964.2:c.875A>G	NP_001308893.1:p.His292Arg
NM_001321965.2:c.875A>G	NP_001308894.1:p.His292Arg
NM_001321966.2:c.815A>G	NP_001308895.1:p.His272Arg
NR_073525.3:n.1387A>G
NR_135905.2:n.1376A>G
NR_135906.2:n.817A>G
NR_135907.2:n.1063A>G
NR_135908.2:n.757A>G
NR_135909.2:n.1273A>G
NR_135910.2:n.1623A>G
NR_135911.2:n.1743A>G
NR_135912.2:n.2302A>G
NR_135913.2:n.1989A>G