Canonical Allele Identifier: CA6162295

Gene: DHCR7

Linked Data

• dbSNP Id: rs755325060
• ExAC: 11:71146683 C / T
• MyVariant Identifiers: chr11:g.71146683C>T (hg19) ; chr11:g.71435637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435637C>T , CM000673.2:g.71435637C>T	GRCh38
NC_000011.9:g.71146683C>T , CM000673.1:g.71146683C>T	GRCh37
NC_000011.8:g.70824331C>T	NCBI36
NG_012655.2:g.17795G>A , LRG_340:g.17795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1166G>A	ENSP00000435707.3:p.Arg389Lys
ENST00000526780.6:c.1166G>A	ENSP00000435668.2:p.Arg389Lys
ENST00000527316.6:c.992G>A	ENSP00000435047.2:p.Arg331Lys
ENST00000682708.1:c.1217G>A	ENSP00000506866.1:p.Arg406Lys
ENST00000683287.1:c.1202G>A	ENSP00000507607.1:p.Arg401Lys
ENST00000683714.1:c.1174G>A	ENSP00000508207.1:p.Gly392Ser
ENST00000684396.1:n.1206G>A
ENST00000685320.1:c.581G>A	ENSP00000509319.1:p.Arg194Lys
ENST00000690257.1:c.1070G>A	ENSP00000510750.1:p.Arg357Lys
ENST00000355527.8:c.1166G>A MANE Select	ENSP00000347717.4:p.Arg389Lys
ENST00000355527.7:c.1166G>A	ENSP00000347717.3:p.Arg389Lys
ENST00000407721.6:c.1166G>A	ENSP00000384739.2:p.Arg389Lys
ENST00000525137.1:c.667G>A	ENSP00000435956.1:p.Gly223Ser
ENST00000533800.5:c.416G>A	ENSP00000435011.1:p.Arg139Lys
ENST00000534795.5:c.319+2175G>A
NM_001163817.1:c.1166G>A	NP_001157289.1:p.Arg389Lys
NM_001360.2:c.1166G>A , LRG_340t1:c.1166G>A	NP_001351.2:p.Arg389Lys
XM_011544777.1:c.1300G>A	XP_011543079.1:p.Gly434Ser
XM_011544777.2:c.1300G>A	XP_011543079.1:p.Gly434Ser
NM_001163817.2:c.1166G>A	NP_001157289.1:p.Arg389Lys
NM_001360.3:c.1166G>A MANE Select	NP_001351.2:p.Arg389Lys