Canonical Allele Identifier: CA381701659

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2123489
• ClinVar RCV Id: RCV003055102
• MyVariant Identifiers: chr11:g.71146673G>A (hg19) ; chr11:g.71435627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435627G>A , CM000673.2:g.71435627G>A	GRCh38
NC_000011.9:g.71146673G>A , CM000673.1:g.71146673G>A	GRCh37
NC_000011.8:g.70824321G>A	NCBI36
NG_012655.2:g.17805C>T , LRG_340:g.17805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1176C>T	ENSP00000435707.3:p.Ser392=
ENST00000526780.6:c.1176C>T	ENSP00000435668.2:p.Ser392=
ENST00000527316.6:c.1002C>T	ENSP00000435047.2:p.Ser334=
ENST00000682708.1:c.1227C>T	ENSP00000506866.1:p.Ser409=
ENST00000683287.1:c.1212C>T	ENSP00000507607.1:p.Ser404=
ENST00000683714.1:c.1184C>T	ENSP00000508207.1:p.Ala395Val
ENST00000684396.1:n.1216C>T
ENST00000685320.1:c.591C>T	ENSP00000509319.1:p.Ser197=
ENST00000690257.1:c.1080C>T	ENSP00000510750.1:p.Ser360=
ENST00000355527.8:c.1176C>T MANE Select	ENSP00000347717.4:p.Ser392=
ENST00000355527.7:c.1176C>T	ENSP00000347717.3:p.Ser392=
ENST00000407721.6:c.1176C>T	ENSP00000384739.2:p.Ser392=
ENST00000525137.1:c.677C>T	ENSP00000435956.1:p.Ala226Val
ENST00000533800.5:c.426C>T	ENSP00000435011.1:p.Ser142=
ENST00000534795.5:c.319+2185C>T
NM_001163817.1:c.1176C>T	NP_001157289.1:p.Ser392=
NM_001360.2:c.1176C>T , LRG_340t1:c.1176C>T	NP_001351.2:p.Ser392=
XM_011544777.1:c.1310C>T	XP_011543079.1:p.Ala437Val
XM_011544777.2:c.1310C>T	XP_011543079.1:p.Ala437Val
NM_001163817.2:c.1176C>T	NP_001157289.1:p.Ser392=
NM_001360.3:c.1176C>T MANE Select	NP_001351.2:p.Ser392=