Canonical Allele Identifier: CA16041549

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 370286
• ClinVar RCV Id: RCV000411396
• dbSNP Id: rs1057516375
• MyVariant Identifiers: chr11:g.71146868G>T (hg19) ; chr11:g.71435822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435822G>T , CM000673.2:g.71435822G>T	GRCh38
NC_000011.9:g.71146868G>T , CM000673.1:g.71146868G>T	GRCh37
NC_000011.8:g.70824516G>T	NCBI36
NG_012655.2:g.17610C>A , LRG_340:g.17610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.981C>A	ENSP00000435707.3:p.Tyr327Ter
ENST00000526780.6:c.981C>A	ENSP00000435668.2:p.Tyr327Ter
ENST00000527316.6:c.807C>A	ENSP00000435047.2:p.Tyr269Ter
ENST00000682708.1:c.1032C>A	ENSP00000506866.1:p.Tyr344Ter
ENST00000683287.1:c.1017C>A	ENSP00000507607.1:p.Tyr339Ter
ENST00000683714.1:c.989C>A	ENSP00000508207.1:p.Thr330Asn
ENST00000684396.1:n.1021C>A
ENST00000685320.1:c.396C>A	ENSP00000509319.1:p.Tyr132Ter
ENST00000690257.1:c.885C>A	ENSP00000510750.1:p.Tyr295Ter
ENST00000355527.8:c.981C>A MANE Select	ENSP00000347717.4:p.Tyr327Ter
ENST00000355527.7:c.981C>A	ENSP00000347717.3:p.Tyr327Ter
ENST00000407721.6:c.981C>A	ENSP00000384739.2:p.Tyr327Ter
ENST00000525137.1:c.482C>A	ENSP00000435956.1:p.Thr161Asn
ENST00000533800.5:c.231C>A	ENSP00000435011.1:p.Tyr77Ter
ENST00000534795.5:c.319+1990C>A
NM_001163817.1:c.981C>A	NP_001157289.1:p.Tyr327Ter
NM_001360.2:c.981C>A , LRG_340t1:c.981C>A	NP_001351.2:p.Tyr327Ter
XM_011544777.1:c.1115C>A	XP_011543079.1:p.Thr372Asn
XM_011544777.2:c.1115C>A	XP_011543079.1:p.Thr372Asn
NM_001163817.2:c.981C>A	NP_001157289.1:p.Tyr327Ter
NM_001360.3:c.981C>A MANE Select	NP_001351.2:p.Tyr327Ter