Canonical Allele Identifier: CA6162452

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1477868
• ClinVar RCV Id: RCV001971809
• dbSNP Id: rs774275482
• ExAC: 11:71149935 T / G
• gnomAD v2: 11-71149935-T-G
• MyVariant Identifiers: chr11:g.71149935T>G (hg19) ; chr11:g.71438889T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438889T>G , CM000673.2:g.71438889T>G	GRCh38
NC_000011.9:g.71149935T>G , CM000673.1:g.71149935T>G	GRCh37
NC_000011.8:g.70827583T>G	NCBI36
NG_012655.2:g.14543A>C , LRG_340:g.14543A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.821A>C	ENSP00000435707.3:p.Asn274Thr
ENST00000526780.6:c.821A>C	ENSP00000435668.2:p.Asn274Thr
ENST00000527316.6:c.647A>C	ENSP00000435047.2:p.Asn216Thr
ENST00000682708.1:c.872A>C	ENSP00000506866.1:p.Asn291Thr
ENST00000682880.1:c.821A>C	ENSP00000507520.1:p.Asn274Thr
ENST00000683287.1:c.857A>C	ENSP00000507607.1:p.Asn286Thr
ENST00000683714.1:c.821A>C	ENSP00000508207.1:p.Asn274Thr
ENST00000684396.1:n.861A>C
ENST00000685320.1:c.236A>C	ENSP00000509319.1:p.Asn79Thr
ENST00000690257.1:c.725A>C	ENSP00000510750.1:p.Asn242Thr
ENST00000355527.8:c.821A>C MANE Select	ENSP00000347717.4:p.Asn274Thr
ENST00000355527.7:c.821A>C	ENSP00000347717.3:p.Asn274Thr
ENST00000407721.6:c.821A>C	ENSP00000384739.2:p.Asn274Thr
ENST00000525137.1:c.188A>C	ENSP00000435956.1:p.Asn63Thr
ENST00000527316.5:c.725A>C	ENSP00000435047.1:p.Asn242Thr
ENST00000533800.5:c.71A>C	ENSP00000435011.1:p.Asn24Thr
ENST00000534701.1:n.316A>C
ENST00000534795.5:c.177A>C
NM_001163817.1:c.821A>C	NP_001157289.1:p.Asn274Thr
NM_001360.2:c.821A>C , LRG_340t1:c.821A>C	NP_001351.2:p.Asn274Thr
XM_011544777.1:c.821A>C	XP_011543079.1:p.Asn274Thr
XM_011544777.2:c.821A>C	XP_011543079.1:p.Asn274Thr
NM_001163817.2:c.821A>C	NP_001157289.1:p.Asn274Thr
NM_001360.3:c.821A>C MANE Select	NP_001351.2:p.Asn274Thr