Canonical Allele Identifier: CA16041551

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 371059
• ClinVar RCV Id: RCV000411265
• dbSNP Id: rs1057516973
• MyVariant Identifiers: chr11:g.71148857C>A (hg19) ; chr11:g.71437811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437811C>A , CM000673.2:g.71437811C>A	GRCh38
NC_000011.9:g.71148857C>A , CM000673.1:g.71148857C>A	GRCh37
NC_000011.8:g.70826505C>A	NCBI36
NG_012655.2:g.15621G>T , LRG_340:g.15621G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+1G>T	ENSP00000435707.3:n.963+1G>T
ENST00000526780.6:c.963+1G>T	ENSP00000435668.2:n.963+1G>T
ENST00000527316.6:c.789+1G>T	ENSP00000435047.2:n.789+1G>T
ENST00000682708.1:c.1014+1G>T	ENSP00000506866.1:n.1014+1G>T
ENST00000682880.1:c.964G>T	ENSP00000507520.1:p.Val322Leu
ENST00000683287.1:c.999+1G>T	ENSP00000507607.1:n.999+1G>T
ENST00000683714.1:c.964G>T	ENSP00000508207.1:p.Val322Leu
ENST00000684396.1:n.1003+1G>T
ENST00000685320.1:c.378+1G>T	ENSP00000509319.1:n.378+1G>T
ENST00000690257.1:c.867+1G>T	ENSP00000510750.1:n.867+1G>T
ENST00000355527.8:c.963+1G>T MANE Select	ENSP00000347717.4:n.963+1G>T
ENST00000355527.7:c.963+1G>T	ENSP00000347717.3:n.963+1G>T
ENST00000407721.6:c.963+1G>T	ENSP00000384739.2:n.963+1G>T
ENST00000525137.1:c.330+1G>T	ENSP00000435956.1:n.330+1G>T
ENST00000533800.5:c.213+1G>T	ENSP00000435011.1:n.213+1G>T
ENST00000534795.5:c.319+1G>T
NM_001163817.1:c.963+1G>T	NP_001157289.1:n.963+1G>T
NM_001360.2:c.963+1G>T , LRG_340t1:c.963+1G>T	NP_001351.2:n.963+1G>T
XM_011544777.1:c.963+1G>T	XP_011543079.1:n.963+1G>T
XM_011544777.2:c.963+1G>T	XP_011543079.1:n.963+1G>T
NM_001163817.2:c.963+1G>T	NP_001157289.1:n.963+1G>T
NM_001360.3:c.963+1G>T MANE Select	NP_001351.2:n.963+1G>T