Canonical Allele Identifier: CA463074109

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1174889447
• gnomAD v2: 8-133584647-T-C
• gnomAD v4: 8-132572399-T-C
• MyVariant Identifiers: chr8:g.133584647T>C (hg19) ; chr8:g.132572399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572399T>C , CM000670.2:g.132572399T>C	GRCh38
NC_000008.10:g.133584647T>C , CM000670.1:g.133584647T>C	GRCh37
NC_000008.9:g.133653829T>C	NCBI36
NG_033068.1:g.108217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1308A>G MANE Select	ENSP00000484634.1:p.Lys436=
ENST00000250173.5:c.*172A>G	ENSP00000250173.2:n.*172A>G
ENST00000518642.5:c.*172A>G	ENSP00000428610.1:n.*172A>G
ENST00000519595.5:c.1308A>G	ENSP00000429791.1:p.Lys436=
ENST00000522789.5:c.528A>G	ENSP00000428015.1:p.Lys176=
ENST00000618342.1:c.1308A>G	ENSP00000484802.1:p.Lys436=
ENST00000620350.4:c.1308A>G	ENSP00000484634.1:p.Lys436=
NM_012472.4:c.1308A>G	NP_036604.2:p.Lys436=
NR_073525.1:n.1532A>G
XM_006716538.2:c.1326A>G	XP_006716601.2:p.Lys442=
XM_011516950.1:c.1266A>G	XP_011515252.1:p.Lys422=
XM_011516952.1:c.1062A>G	XP_011515254.1:p.Lys354=
XM_011516953.1:c.948A>G	XP_011515255.1:p.Lys316=
XM_011516954.1:c.948A>G	XP_011515256.1:p.Lys316=
XR_428377.2:n.1560A>G
NM_001321961.1:c.1248A>G	NP_001308890.1:p.Lys416=
NM_001321962.1:c.1062A>G	NP_001308891.1:p.Lys354=
NM_001321963.1:c.948A>G	NP_001308892.1:p.Lys316=
NM_001321964.1:c.948A>G	NP_001308893.1:p.Lys316=
NM_001321965.1:c.948A>G	NP_001308894.1:p.Lys316=
NM_001321966.1:c.888A>G	NP_001308895.1:p.Lys296=
NM_012472.5:c.1308A>G	NP_036604.2:p.Lys436=
NR_073525.2:n.1532A>G
NR_135905.1:n.1521A>G
NR_135906.1:n.962A>G
NR_135907.1:n.1208A>G
NR_135908.1:n.902A>G
NR_135909.1:n.1326A>G
NR_135910.1:n.1633A>G
NR_135911.1:n.1712A>G
NR_135912.1:n.2271A>G
NR_135913.1:n.1958A>G
XM_006716538.3:c.1326A>G	XP_006716601.2:p.Lys442=
XM_011516950.2:c.1266A>G	XP_011515252.1:p.Lys422=
XM_017013296.1:c.1206A>G	XP_016868785.1:p.Lys402=
XM_017013297.1:c.948A>G	XP_016868786.1:p.Lys316=
XM_017013298.1:c.948A>G	XP_016868787.1:p.Lys316=
NM_012472.6:c.1308A>G MANE Select	NP_036604.2:p.Lys436=
NM_001321961.2:c.1248A>G	NP_001308890.1:p.Lys416=
NM_001321962.2:c.1062A>G	NP_001308891.1:p.Lys354=
NM_001321963.2:c.948A>G	NP_001308892.1:p.Lys316=
NM_001321964.2:c.948A>G	NP_001308893.1:p.Lys316=
NM_001321965.2:c.948A>G	NP_001308894.1:p.Lys316=
NM_001321966.2:c.888A>G	NP_001308895.1:p.Lys296=
NR_073525.3:n.1460A>G
NR_135905.2:n.1449A>G
NR_135906.2:n.890A>G
NR_135907.2:n.1136A>G
NR_135908.2:n.830A>G
NR_135909.2:n.1346A>G
NR_135910.2:n.1696A>G
NR_135911.2:n.1816A>G
NR_135912.2:n.2375A>G
NR_135913.2:n.2062A>G