Canonical Allele Identifier: CA179963

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 166985
• ClinVar RCV Id: RCV000153140 ; RCV000332036 ; RCV001706018 ; RCV002312674
• dbSNP Id: rs35946774
• ExAC: 11:71146757 C / T
• gnomAD v2: 11-71146757-C-T
• gnomAD v3: 11-71435711-C-T
• gnomAD v4: 11-71435711-C-T
• MyVariant Identifiers: chr11:g.71146757C>T (hg19) ; chr11:g.71435711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435711C>T , CM000673.2:g.71435711C>T	GRCh38
NC_000011.9:g.71146757C>T , CM000673.1:g.71146757C>T	GRCh37
NC_000011.8:g.70824405C>T	NCBI36
NG_012655.2:g.17721G>A , LRG_340:g.17721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1092G>A	ENSP00000435707.3:p.Thr364=
ENST00000526780.6:c.1092G>A	ENSP00000435668.2:p.Thr364=
ENST00000527316.6:c.918G>A	ENSP00000435047.2:p.Thr306=
ENST00000682708.1:c.1143G>A	ENSP00000506866.1:p.Thr381=
ENST00000683287.1:c.1128G>A	ENSP00000507607.1:p.Thr376=
ENST00000683714.1:c.1100G>A	ENSP00000508207.1:p.Arg367Gln
ENST00000684396.1:n.1132G>A
ENST00000685320.1:c.507G>A	ENSP00000509319.1:p.Thr169=
ENST00000690257.1:c.996G>A	ENSP00000510750.1:p.Thr332=
ENST00000355527.8:c.1092G>A MANE Select	ENSP00000347717.4:p.Thr364=
ENST00000355527.7:c.1092G>A	ENSP00000347717.3:p.Thr364=
ENST00000407721.6:c.1092G>A	ENSP00000384739.2:p.Thr364=
ENST00000525137.1:c.593G>A	ENSP00000435956.1:p.Arg198Gln
ENST00000533800.5:c.342G>A	ENSP00000435011.1:p.Thr114=
ENST00000534795.5:c.319+2101G>A
NM_001163817.1:c.1092G>A	NP_001157289.1:p.Thr364=
NM_001360.2:c.1092G>A , LRG_340t1:c.1092G>A	NP_001351.2:p.Thr364=
XM_011544777.1:c.1226G>A	XP_011543079.1:p.Arg409Gln
XM_011544777.2:c.1226G>A	XP_011543079.1:p.Arg409Gln
NM_001163817.2:c.1092G>A	NP_001157289.1:p.Thr364=
NM_001360.3:c.1092G>A MANE Select	NP_001351.2:p.Thr364=