Canonical Allele Identifier: CA31409204

Gene: DCAF6

Linked Data

• dbSNP Id: rs989124162
• gnomAD v3: 1-168045152-T-C
• gnomAD v4: 1-168045152-T-C
• MyVariant Identifiers: chr1:g.168014390T>C (hg19) ; chr1:g.168045152T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168045152T>C , CM000663.2:g.168045152T>C	GRCh38
NC_000001.10:g.168014390T>C , CM000663.1:g.168014390T>C	GRCh37
NC_000001.9:g.166281014T>C	NCBI36
NG_053062.1:g.113914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367840.4:c.2183T>C MANE Select	ENSP00000356814.3:p.Leu728Pro
ENST00000312263.10:c.1952T>C	ENSP00000311949.6:p.Leu651Pro
ENST00000367840.3:c.2183T>C	ENSP00000356814.3:p.Leu728Pro
ENST00000367843.7:c.2012T>C	ENSP00000356817.3:p.Leu671Pro
ENST00000432587.6:c.2090T>C	ENSP00000396238.2:p.Leu697Pro
ENST00000478668.1:n.72T>C
ENST00000489398.1:n.751T>C
NM_001017977.2:c.1952T>C	NP_001017977.1:p.Leu651Pro
NM_001198956.1:c.2183T>C	NP_001185885.1:p.Leu728Pro
NM_001198957.1:c.2090T>C	NP_001185886.1:p.Leu697Pro
NM_018442.3:c.2012T>C	NP_060912.2:p.Leu671Pro
XM_005245331.3:c.2183T>C	XP_005245388.1:p.Leu728Pro
XM_005245332.3:c.2012T>C	XP_005245389.1:p.Leu671Pro
XM_005245333.3:c.1952T>C	XP_005245390.1:p.Leu651Pro
XM_011509767.1:c.1742T>C	XP_011508069.1:p.Leu581Pro
XR_921892.1:n.2276T>C
XR_921893.1:n.2105T>C
NM_001349773.1:c.2183T>C	NP_001336702.1:p.Leu728Pro
NM_001349774.1:c.1571T>C	NP_001336703.1:p.Leu524Pro
NM_001349775.1:c.1571T>C	NP_001336704.1:p.Leu524Pro
NM_001349776.1:c.1571T>C	NP_001336705.1:p.Leu524Pro
NM_001349777.1:c.1571T>C	NP_001336706.1:p.Leu524Pro
NM_001349778.1:c.1511T>C	NP_001336707.1:p.Leu504Pro
NM_001349779.1:c.1511T>C	NP_001336708.1:p.Leu504Pro
NM_001349780.1:c.1511T>C	NP_001336709.1:p.Leu504Pro
NR_146228.1:n.1871T>C
NR_146229.1:n.2488T>C
NR_146230.1:n.2187T>C
XM_005245332.5:c.2012T>C	XP_005245389.1:p.Leu671Pro
XM_005245333.5:c.1952T>C	XP_005245390.1:p.Leu651Pro
XM_017001779.2:c.1742T>C	XP_016857268.1:p.Leu581Pro
XM_024448371.1:c.1742T>C	XP_024304139.1:p.Leu581Pro
XM_024448372.1:c.1571T>C	XP_024304140.1:p.Leu524Pro
XM_024448373.1:c.1511T>C	XP_024304141.1:p.Leu504Pro
XM_024448374.1:c.1511T>C	XP_024304142.1:p.Leu504Pro
XM_024448375.1:c.1511T>C	XP_024304143.1:p.Leu504Pro
NM_001017977.3:c.1952T>C	NP_001017977.1:p.Leu651Pro
NM_001198956.2:c.2183T>C MANE Select	NP_001185885.1:p.Leu728Pro
NM_001198957.2:c.2090T>C	NP_001185886.1:p.Leu697Pro
NM_001349773.2:c.2183T>C	NP_001336702.1:p.Leu728Pro
NM_001349774.2:c.1571T>C	NP_001336703.1:p.Leu524Pro
NM_001349775.2:c.1571T>C	NP_001336704.1:p.Leu524Pro
NM_001349776.2:c.1571T>C	NP_001336705.1:p.Leu524Pro
NM_001349777.2:c.1571T>C	NP_001336706.1:p.Leu524Pro
NM_001349778.2:c.1511T>C	NP_001336707.1:p.Leu504Pro
NM_001349779.2:c.1511T>C	NP_001336708.1:p.Leu504Pro
NM_001349780.2:c.1511T>C	NP_001336709.1:p.Leu504Pro
NM_001393650.1:c.1952T>C	NP_001380579.1:p.Leu651Pro
NM_001393651.1:c.2012T>C	NP_001380580.1:p.Leu671Pro
NM_018442.4:c.2012T>C	NP_060912.2:p.Leu671Pro
NR_146228.2:n.1747T>C
NR_146229.2:n.2364T>C
NR_146230.2:n.2063T>C