Canonical Allele Identifier: CA381701004

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1306280
• ClinVar RCV Id: RCV001767233 ; RCV002488545
• dbSNP Id: rs1244124212
• gnomAD v2: 11-71146552-T-C
• gnomAD v4: 11-71435506-T-C
• MyVariant Identifiers: chr11:g.71146552T>C (hg19) ; chr11:g.71435506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435506T>C , CM000673.2:g.71435506T>C	GRCh38
NC_000011.9:g.71146552T>C , CM000673.1:g.71146552T>C	GRCh37
NC_000011.8:g.70824200T>C	NCBI36
NG_012655.2:g.17926A>G , LRG_340:g.17926A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1297A>G	ENSP00000435707.3:p.Ile433Val
ENST00000526780.6:c.1297A>G	ENSP00000435668.2:p.Ile433Val
ENST00000527316.6:c.1123A>G	ENSP00000435047.2:p.Ile375Val
ENST00000682708.1:c.1348A>G	ENSP00000506866.1:p.Ile450Val
ENST00000683287.1:c.1333A>G	ENSP00000507607.1:p.Ile445Val
ENST00000683714.1:c.*60A>G	ENSP00000508207.1:n.*60A>G
ENST00000684396.1:n.1337A>G
ENST00000685320.1:c.712A>G	ENSP00000509319.1:p.Ile238Val
ENST00000690257.1:c.1201A>G	ENSP00000510750.1:p.Ile401Val
ENST00000355527.8:c.1297A>G MANE Select	ENSP00000347717.4:p.Ile433Val
ENST00000355527.7:c.1297A>G	ENSP00000347717.3:p.Ile433Val
ENST00000407721.6:c.1297A>G	ENSP00000384739.2:p.Ile433Val
ENST00000525137.1:c.798A>G	ENSP00000435956.1:n.798A>G
ENST00000533800.5:c.547A>G	ENSP00000435011.1:p.Ile183Val
ENST00000534795.5:c.319+2306A>G
NM_001163817.1:c.1297A>G	NP_001157289.1:p.Ile433Val
NM_001360.2:c.1297A>G , LRG_340t1:c.1297A>G	NP_001351.2:p.Ile433Val
XM_011544777.1:c.*60A>G	XP_011543079.1:n.*60A>G
XM_011544777.2:c.*60A>G	XP_011543079.1:n.*60A>G
NM_001163817.2:c.1297A>G	NP_001157289.1:p.Ile433Val
NM_001360.3:c.1297A>G MANE Select	NP_001351.2:p.Ile433Val