Canonical Allele Identifier: CA343085339

Gene: DCAF6

Linked Data

• gnomAD v4: 1-168045182-C-T
• MyVariant Identifiers: chr1:g.168014420C>T (hg19) ; chr1:g.168045182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168045182C>T , CM000663.2:g.168045182C>T	GRCh38
NC_000001.10:g.168014420C>T , CM000663.1:g.168014420C>T	GRCh37
NC_000001.9:g.166281044C>T	NCBI36
NG_053062.1:g.113944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367840.4:c.2213C>T MANE Select	ENSP00000356814.3:p.Pro738Leu
ENST00000312263.10:c.1982C>T	ENSP00000311949.6:p.Pro661Leu
ENST00000367840.3:c.2213C>T	ENSP00000356814.3:p.Pro738Leu
ENST00000367843.7:c.2042C>T	ENSP00000356817.3:p.Pro681Leu
ENST00000432587.6:c.2120C>T	ENSP00000396238.2:p.Pro707Leu
ENST00000478668.1:n.102C>T
ENST00000489398.1:n.781C>T
NM_001017977.2:c.1982C>T	NP_001017977.1:p.Pro661Leu
NM_001198956.1:c.2213C>T	NP_001185885.1:p.Pro738Leu
NM_001198957.1:c.2120C>T	NP_001185886.1:p.Pro707Leu
NM_018442.3:c.2042C>T	NP_060912.2:p.Pro681Leu
XM_005245331.3:c.2213C>T	XP_005245388.1:p.Pro738Leu
XM_005245332.3:c.2042C>T	XP_005245389.1:p.Pro681Leu
XM_005245333.3:c.1982C>T	XP_005245390.1:p.Pro661Leu
XM_011509767.1:c.1772C>T	XP_011508069.1:p.Pro591Leu
XR_921892.1:n.2306C>T
XR_921893.1:n.2135C>T
NM_001349773.1:c.2213C>T	NP_001336702.1:p.Pro738Leu
NM_001349774.1:c.1601C>T	NP_001336703.1:p.Pro534Leu
NM_001349775.1:c.1601C>T	NP_001336704.1:p.Pro534Leu
NM_001349776.1:c.1601C>T	NP_001336705.1:p.Pro534Leu
NM_001349777.1:c.1601C>T	NP_001336706.1:p.Pro534Leu
NM_001349778.1:c.1541C>T	NP_001336707.1:p.Pro514Leu
NM_001349779.1:c.1541C>T	NP_001336708.1:p.Pro514Leu
NM_001349780.1:c.1541C>T	NP_001336709.1:p.Pro514Leu
NR_146228.1:n.1901C>T
NR_146229.1:n.2518C>T
NR_146230.1:n.2217C>T
XM_005245332.5:c.2042C>T	XP_005245389.1:p.Pro681Leu
XM_005245333.5:c.1982C>T	XP_005245390.1:p.Pro661Leu
XM_017001779.2:c.1772C>T	XP_016857268.1:p.Pro591Leu
XM_024448371.1:c.1772C>T	XP_024304139.1:p.Pro591Leu
XM_024448372.1:c.1601C>T	XP_024304140.1:p.Pro534Leu
XM_024448373.1:c.1541C>T	XP_024304141.1:p.Pro514Leu
XM_024448374.1:c.1541C>T	XP_024304142.1:p.Pro514Leu
XM_024448375.1:c.1541C>T	XP_024304143.1:p.Pro514Leu
NM_001017977.3:c.1982C>T	NP_001017977.1:p.Pro661Leu
NM_001198956.2:c.2213C>T MANE Select	NP_001185885.1:p.Pro738Leu
NM_001198957.2:c.2120C>T	NP_001185886.1:p.Pro707Leu
NM_001349773.2:c.2213C>T	NP_001336702.1:p.Pro738Leu
NM_001349774.2:c.1601C>T	NP_001336703.1:p.Pro534Leu
NM_001349775.2:c.1601C>T	NP_001336704.1:p.Pro534Leu
NM_001349776.2:c.1601C>T	NP_001336705.1:p.Pro534Leu
NM_001349777.2:c.1601C>T	NP_001336706.1:p.Pro534Leu
NM_001349778.2:c.1541C>T	NP_001336707.1:p.Pro514Leu
NM_001349779.2:c.1541C>T	NP_001336708.1:p.Pro514Leu
NM_001349780.2:c.1541C>T	NP_001336709.1:p.Pro514Leu
NM_001393650.1:c.1982C>T	NP_001380579.1:p.Pro661Leu
NM_001393651.1:c.2042C>T	NP_001380580.1:p.Pro681Leu
NM_018442.4:c.2042C>T	NP_060912.2:p.Pro681Leu
NR_146228.2:n.1777C>T
NR_146229.2:n.2394C>T
NR_146230.2:n.2093C>T