Canonical Allele Identifier: CA090917

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 93725
• ClinVar RCV Id: RCV000079661 ; RCV000180570 ; RCV000623789 ; RCV001263353 ; RCV002251968 ; RCV003390775
• dbSNP Id: rs138659167
• ExAC: 11:71146886 C / G
• gnomAD v2: 11-71146886-C-G
• gnomAD v3: 11-71435840-C-G
• gnomAD v4: 11-71435840-C-G
• MyVariant Identifiers: chr11:g.71146886C>G (hg19) ; chr11:g.71435840C>G (hg38)
• PubMed: PMID:8259166 ; PMID:8737829 ; PMID:9024557 ; PMID:9653161 ; PMID:9683613 ; PMID:10677299 ; PMID:10710236 ; PMID:10807690 ; PMID:10814720 ; PMID:10995508 ; PMID:11161831 ; PMID:11175299 ; PMID:11241839 ; PMID:11427181 ; PMID:11562938 ; PMID:12794707 ; PMID:15286151 ; PMID:15464432 ; PMID:15776424 ; PMID:15952211 ; PMID:16761297 ; PMID:16906538 ; PMID:16983147 ; PMID:17965227 ; PMID:18285838 ; PMID:19365639 ; PMID:20635399 ; PMID:21777499 ; PMID:22438180 ; PMID:22975760 ; PMID:23042628 ; PMID:23293579 ; PMID:23918729 ; PMID:24824134 ; PMID:25108116 ; PMID:25807282 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435840C>G , CM000673.2:g.71435840C>G	GRCh38
NC_000011.9:g.71146886C>G , CM000673.1:g.71146886C>G	GRCh37
NC_000011.8:g.70824534C>G	NCBI36
NG_012655.2:g.17592G>C , LRG_340:g.17592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-1G>C	ENSP00000435707.3:n.964-1G>C
ENST00000526780.6:c.964-1G>C	ENSP00000435668.2:n.964-1G>C
ENST00000527316.6:c.790-1G>C	ENSP00000435047.2:n.790-1G>C
ENST00000682708.1:c.1015-1G>C	ENSP00000506866.1:n.1015-1G>C
ENST00000683287.1:c.1000-1G>C	ENSP00000507607.1:n.1000-1G>C
ENST00000683714.1:c.972-1G>C	ENSP00000508207.1:n.972-1G>C
ENST00000684396.1:n.1004-1G>C
ENST00000685320.1:c.379-1G>C	ENSP00000509319.1:n.379-1G>C
ENST00000690257.1:c.868-1G>C	ENSP00000510750.1:n.868-1G>C
ENST00000355527.8:c.964-1G>C MANE Select	ENSP00000347717.4:n.964-1G>C
ENST00000355527.7:c.964-1G>C	ENSP00000347717.3:n.964-1G>C
ENST00000407721.6:c.964-1G>C	ENSP00000384739.2:n.964-1G>C
ENST00000525137.1:c.464G>C	ENSP00000435956.1:p.Arg155Thr
ENST00000533800.5:c.214-1G>C	ENSP00000435011.1:n.214-1G>C
ENST00000534795.5:c.319+1972G>C
NM_001163817.1:c.964-1G>C	NP_001157289.1:n.964-1G>C
NM_001360.2:c.964-1G>C , LRG_340t1:c.964-1G>C	NP_001351.2:n.964-1G>C
XM_011544777.1:c.1097G>C	XP_011543079.1:p.Arg366Thr
XM_011544777.2:c.1097G>C	XP_011543079.1:p.Arg366Thr
NM_001163817.2:c.964-1G>C	NP_001157289.1:n.964-1G>C
NM_001360.3:c.964-1G>C MANE Select	NP_001351.2:n.964-1G>C