Canonical Allele Identifier: CA4881086

Gene: DNAAF11

Linked Data

• ClinVar Variation Id: 568271
• ClinVar RCV Id: RCV000688573
• dbSNP Id: rs770349365
• ExAC: 8:133584661 C / A
• gnomAD v2: 8-133584661-C-A
• gnomAD v4: 8-132572413-C-A
• MyVariant Identifiers: chr8:g.133584661C>A (hg19) ; chr8:g.132572413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572413C>A , CM000670.2:g.132572413C>A	GRCh38
NC_000008.10:g.133584661C>A , CM000670.1:g.133584661C>A	GRCh37
NC_000008.9:g.133653843C>A	NCBI36
NG_033068.1:g.108203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1294G>T MANE Select	ENSP00000484634.1:p.Val432Phe
ENST00000250173.5:c.*158G>T	ENSP00000250173.2:n.*158G>T
ENST00000518642.5:c.*158G>T	ENSP00000428610.1:n.*158G>T
ENST00000519595.5:c.1294G>T	ENSP00000429791.1:p.Val432Phe
ENST00000522789.5:c.514G>T	ENSP00000428015.1:p.Val172Phe
ENST00000618342.1:c.1294G>T	ENSP00000484802.1:p.Val432Phe
ENST00000620350.4:c.1294G>T	ENSP00000484634.1:p.Val432Phe
NM_012472.4:c.1294G>T	NP_036604.2:p.Val432Phe
NR_073525.1:n.1518G>T
XM_006716538.2:c.1312G>T	XP_006716601.2:p.Val438Phe
XM_011516950.1:c.1252G>T	XP_011515252.1:p.Val418Phe
XM_011516952.1:c.1048G>T	XP_011515254.1:p.Val350Phe
XM_011516953.1:c.934G>T	XP_011515255.1:p.Val312Phe
XM_011516954.1:c.934G>T	XP_011515256.1:p.Val312Phe
XR_428377.2:n.1546G>T
NM_001321961.1:c.1234G>T	NP_001308890.1:p.Val412Phe
NM_001321962.1:c.1048G>T	NP_001308891.1:p.Val350Phe
NM_001321963.1:c.934G>T	NP_001308892.1:p.Val312Phe
NM_001321964.1:c.934G>T	NP_001308893.1:p.Val312Phe
NM_001321965.1:c.934G>T	NP_001308894.1:p.Val312Phe
NM_001321966.1:c.874G>T	NP_001308895.1:p.Val292Phe
NM_012472.5:c.1294G>T	NP_036604.2:p.Val432Phe
NR_073525.2:n.1518G>T
NR_135905.1:n.1507G>T
NR_135906.1:n.948G>T
NR_135907.1:n.1194G>T
NR_135908.1:n.888G>T
NR_135909.1:n.1312G>T
NR_135910.1:n.1619G>T
NR_135911.1:n.1698G>T
NR_135912.1:n.2257G>T
NR_135913.1:n.1944G>T
XM_006716538.3:c.1312G>T	XP_006716601.2:p.Val438Phe
XM_011516950.2:c.1252G>T	XP_011515252.1:p.Val418Phe
XM_017013296.1:c.1192G>T	XP_016868785.1:p.Val398Phe
XM_017013297.1:c.934G>T	XP_016868786.1:p.Val312Phe
XM_017013298.1:c.934G>T	XP_016868787.1:p.Val312Phe
NM_012472.6:c.1294G>T MANE Select	NP_036604.2:p.Val432Phe
NM_001321961.2:c.1234G>T	NP_001308890.1:p.Val412Phe
NM_001321962.2:c.1048G>T	NP_001308891.1:p.Val350Phe
NM_001321963.2:c.934G>T	NP_001308892.1:p.Val312Phe
NM_001321964.2:c.934G>T	NP_001308893.1:p.Val312Phe
NM_001321965.2:c.934G>T	NP_001308894.1:p.Val312Phe
NM_001321966.2:c.874G>T	NP_001308895.1:p.Val292Phe
NR_073525.3:n.1446G>T
NR_135905.2:n.1435G>T
NR_135906.2:n.876G>T
NR_135907.2:n.1122G>T
NR_135908.2:n.816G>T
NR_135909.2:n.1332G>T
NR_135910.2:n.1682G>T
NR_135911.2:n.1802G>T
NR_135912.2:n.2361G>T
NR_135913.2:n.2048G>T