Canonical Allele Identifier: CA253942

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6782
• ClinVar RCV Id: RCV000007184
• dbSNP Id: rs104894212
• MyVariant Identifiers: chr11:g.71150012C>A (hg19) ; chr11:g.71438966C>A (hg38)
• PubMed: PMID:9683613 ; PMID:10710236

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438966C>A , CM000673.2:g.71438966C>A	GRCh38
NC_000011.9:g.71150012C>A , CM000673.1:g.71150012C>A	GRCh37
NC_000011.8:g.70827660C>A	NCBI36
NG_012655.2:g.14466G>T , LRG_340:g.14466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.744G>T	ENSP00000435707.3:p.Trp248Cys
ENST00000526780.6:c.744G>T	ENSP00000435668.2:p.Trp248Cys
ENST00000527316.6:c.570G>T	ENSP00000435047.2:p.Trp190Cys
ENST00000682708.1:c.795G>T	ENSP00000506866.1:p.Trp265Cys
ENST00000682880.1:c.744G>T	ENSP00000507520.1:p.Trp248Cys
ENST00000683287.1:c.780G>T	ENSP00000507607.1:p.Trp260Cys
ENST00000683714.1:c.744G>T	ENSP00000508207.1:p.Trp248Cys
ENST00000684396.1:n.784G>T
ENST00000685320.1:c.159G>T	ENSP00000509319.1:p.Trp53Cys
ENST00000690257.1:c.648G>T	ENSP00000510750.1:p.Trp216Cys
ENST00000355527.8:c.744G>T MANE Select	ENSP00000347717.4:p.Trp248Cys
ENST00000355527.7:c.744G>T	ENSP00000347717.3:p.Trp248Cys
ENST00000407721.6:c.744G>T	ENSP00000384739.2:p.Trp248Cys
ENST00000525137.1:c.111G>T	ENSP00000435956.1:p.Trp37Cys
ENST00000527316.5:c.648G>T	ENSP00000435047.1:p.Trp216Cys
ENST00000534701.1:n.239G>T
ENST00000534795.5:c.100G>T
NM_001163817.1:c.744G>T	NP_001157289.1:p.Trp248Cys
NM_001360.2:c.744G>T , LRG_340t1:c.744G>T	NP_001351.2:p.Trp248Cys
XM_011544777.1:c.744G>T	XP_011543079.1:p.Trp248Cys
XM_011544777.2:c.744G>T	XP_011543079.1:p.Trp248Cys
NM_001163817.2:c.744G>T	NP_001157289.1:p.Trp248Cys
NM_001360.3:c.744G>T MANE Select	NP_001351.2:p.Trp248Cys