Canonical Allele Identifier: CA340608

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6776
• ClinVar RCV Id: RCV000007178
• dbSNP Id: rs80338863
• MyVariant Identifiers: chr11:g.71148990C>G (hg19) ; chr11:g.71437944C>G (hg38)
• PubMed: PMID:9634533 ; PMID:9683613 ; PMID:10677299 ; PMID:10710236 ; PMID:10995508 ; PMID:11175299 ; PMID:11298379 ; PMID:11562938 ; PMID:12794707 ; PMID:15952211 ; PMID:16207203 ; PMID:17965227 ; PMID:20301322

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437944C>G , CM000673.2:g.71437944C>G	GRCh38
NC_000011.9:g.71148990C>G , CM000673.1:g.71148990C>G	GRCh37
NC_000011.8:g.70826638C>G	NCBI36
NG_012655.2:g.15488G>C , LRG_340:g.15488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.832-1G>C	ENSP00000435707.3:n.832-1G>C
ENST00000526780.6:c.832-1G>C	ENSP00000435668.2:n.832-1G>C
ENST00000527316.6:c.658-1G>C	ENSP00000435047.2:n.658-1G>C
ENST00000682708.1:c.883-1G>C	ENSP00000506866.1:n.883-1G>C
ENST00000682880.1:c.832-1G>C	ENSP00000507520.1:n.832-1G>C
ENST00000683287.1:c.868-1G>C	ENSP00000507607.1:n.868-1G>C
ENST00000683714.1:c.832-1G>C	ENSP00000508207.1:n.832-1G>C
ENST00000684396.1:n.872-1G>C
ENST00000685320.1:c.247-1G>C	ENSP00000509319.1:n.247-1G>C
ENST00000690257.1:c.736-1G>C	ENSP00000510750.1:n.736-1G>C
ENST00000355527.8:c.832-1G>C MANE Select	ENSP00000347717.4:n.832-1G>C
ENST00000355527.7:c.832-1G>C	ENSP00000347717.3:n.832-1G>C
ENST00000407721.6:c.832-1G>C	ENSP00000384739.2:n.832-1G>C
ENST00000525137.1:c.199-1G>C	ENSP00000435956.1:n.199-1G>C
ENST00000527316.5:c.736-1G>C	ENSP00000435047.1:n.736-1G>C
ENST00000533800.5:c.82-1G>C	ENSP00000435011.1:n.82-1G>C
ENST00000534795.5:c.188-1G>C
NM_001163817.1:c.832-1G>C	NP_001157289.1:n.832-1G>C
NM_001360.2:c.832-1G>C , LRG_340t1:c.832-1G>C	NP_001351.2:n.832-1G>C
XM_011544777.1:c.832-1G>C	XP_011543079.1:n.832-1G>C
XM_011544777.2:c.832-1G>C	XP_011543079.1:n.832-1G>C
NM_001163817.2:c.832-1G>C	NP_001157289.1:n.832-1G>C
NM_001360.3:c.832-1G>C MANE Select	NP_001351.2:n.832-1G>C