Canonical Allele Identifier: CA6162277

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1763022
• ClinVar RCV Id: RCV002434692 ; RCV003099915
• dbSNP Id: rs756564409
• ExAC: 11:71146589 C / T
• gnomAD v2: 11-71146589-C-T
• gnomAD v3: 11-71435543-C-T
• gnomAD v4: 11-71435543-C-T
• MyVariant Identifiers: chr11:g.71146589C>T (hg19) ; chr11:g.71435543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435543C>T , CM000673.2:g.71435543C>T	GRCh38
NC_000011.9:g.71146589C>T , CM000673.1:g.71146589C>T	GRCh37
NC_000011.8:g.70824237C>T	NCBI36
NG_012655.2:g.17889G>A , LRG_340:g.17889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1260G>A	ENSP00000435707.3:p.Leu420=
ENST00000526780.6:c.1260G>A	ENSP00000435668.2:p.Leu420=
ENST00000527316.6:c.1086G>A	ENSP00000435047.2:p.Leu362=
ENST00000682708.1:c.1311G>A	ENSP00000506866.1:p.Leu437=
ENST00000683287.1:c.1296G>A	ENSP00000507607.1:p.Leu432=
ENST00000683714.1:c.*23G>A	ENSP00000508207.1:n.*23G>A
ENST00000684396.1:n.1300G>A
ENST00000685320.1:c.675G>A	ENSP00000509319.1:p.Leu225=
ENST00000690257.1:c.1164G>A	ENSP00000510750.1:p.Leu388=
ENST00000355527.8:c.1260G>A MANE Select	ENSP00000347717.4:p.Leu420=
ENST00000355527.7:c.1260G>A	ENSP00000347717.3:p.Leu420=
ENST00000407721.6:c.1260G>A	ENSP00000384739.2:p.Leu420=
ENST00000525137.1:c.761G>A	ENSP00000435956.1:n.761G>A
ENST00000533800.5:c.510G>A	ENSP00000435011.1:p.Leu170=
ENST00000534795.5:c.319+2269G>A
NM_001163817.1:c.1260G>A	NP_001157289.1:p.Leu420=
NM_001360.2:c.1260G>A , LRG_340t1:c.1260G>A	NP_001351.2:p.Leu420=
XM_011544777.1:c.*23G>A	XP_011543079.1:n.*23G>A
XM_011544777.2:c.*23G>A	XP_011543079.1:n.*23G>A
NM_001163817.2:c.1260G>A	NP_001157289.1:p.Leu420=
NM_001360.3:c.1260G>A MANE Select	NP_001351.2:p.Leu420=