Canonical Allele Identifier: CA463074122

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 1681025
• ClinVar RCV Id: RCV002238521
• dbSNP Id: rs1370395409
• gnomAD v2: 8-133584671-C-T
• gnomAD v4: 8-132572423-C-T
• MyVariant Identifiers: chr8:g.133584671C>T (hg19) ; chr8:g.132572423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572423C>T , CM000670.2:g.132572423C>T	GRCh38
NC_000008.10:g.133584671C>T , CM000670.1:g.133584671C>T	GRCh37
NC_000008.9:g.133653853C>T	NCBI36
NG_033068.1:g.108193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1284G>A MANE Select	ENSP00000484634.1:p.Val428=
ENST00000250173.5:c.*148G>A	ENSP00000250173.2:n.*148G>A
ENST00000518642.5:c.*148G>A	ENSP00000428610.1:n.*148G>A
ENST00000519595.5:c.1284G>A	ENSP00000429791.1:p.Val428=
ENST00000522789.5:c.504G>A	ENSP00000428015.1:p.Val168=
ENST00000618342.1:c.1284G>A	ENSP00000484802.1:p.Val428=
ENST00000620350.4:c.1284G>A	ENSP00000484634.1:p.Val428=
NM_012472.4:c.1284G>A	NP_036604.2:p.Val428=
NR_073525.1:n.1508G>A
XM_006716538.2:c.1302G>A	XP_006716601.2:p.Val434=
XM_011516950.1:c.1242G>A	XP_011515252.1:p.Val414=
XM_011516952.1:c.1038G>A	XP_011515254.1:p.Val346=
XM_011516953.1:c.924G>A	XP_011515255.1:p.Val308=
XM_011516954.1:c.924G>A	XP_011515256.1:p.Val308=
XR_428377.2:n.1536G>A
NM_001321961.1:c.1224G>A	NP_001308890.1:p.Val408=
NM_001321962.1:c.1038G>A	NP_001308891.1:p.Val346=
NM_001321963.1:c.924G>A	NP_001308892.1:p.Val308=
NM_001321964.1:c.924G>A	NP_001308893.1:p.Val308=
NM_001321965.1:c.924G>A	NP_001308894.1:p.Val308=
NM_001321966.1:c.864G>A	NP_001308895.1:p.Val288=
NM_012472.5:c.1284G>A	NP_036604.2:p.Val428=
NR_073525.2:n.1508G>A
NR_135905.1:n.1497G>A
NR_135906.1:n.938G>A
NR_135907.1:n.1184G>A
NR_135908.1:n.878G>A
NR_135909.1:n.1302G>A
NR_135910.1:n.1609G>A
NR_135911.1:n.1688G>A
NR_135912.1:n.2247G>A
NR_135913.1:n.1934G>A
XM_006716538.3:c.1302G>A	XP_006716601.2:p.Val434=
XM_011516950.2:c.1242G>A	XP_011515252.1:p.Val414=
XM_017013296.1:c.1182G>A	XP_016868785.1:p.Val394=
XM_017013297.1:c.924G>A	XP_016868786.1:p.Val308=
XM_017013298.1:c.924G>A	XP_016868787.1:p.Val308=
NM_012472.6:c.1284G>A MANE Select	NP_036604.2:p.Val428=
NM_001321961.2:c.1224G>A	NP_001308890.1:p.Val408=
NM_001321962.2:c.1038G>A	NP_001308891.1:p.Val346=
NM_001321963.2:c.924G>A	NP_001308892.1:p.Val308=
NM_001321964.2:c.924G>A	NP_001308893.1:p.Val308=
NM_001321965.2:c.924G>A	NP_001308894.1:p.Val308=
NM_001321966.2:c.864G>A	NP_001308895.1:p.Val288=
NR_073525.3:n.1436G>A
NR_135905.2:n.1425G>A
NR_135906.2:n.866G>A
NR_135907.2:n.1112G>A
NR_135908.2:n.806G>A
NR_135909.2:n.1322G>A
NR_135910.2:n.1672G>A
NR_135911.2:n.1792G>A
NR_135912.2:n.2351G>A
NR_135913.2:n.2038G>A