Canonical Allele Identifier: CA381702502

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2696394
• ClinVar RCV Id: RCV003507599
• MyVariant Identifiers: chr11:g.71146853C>G (hg19) ; chr11:g.71435807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435807C>G , CM000673.2:g.71435807C>G	GRCh38
NC_000011.9:g.71146853C>G , CM000673.1:g.71146853C>G	GRCh37
NC_000011.8:g.70824501C>G	NCBI36
NG_012655.2:g.17625G>C , LRG_340:g.17625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.996G>C	ENSP00000435707.3:p.Leu332=
ENST00000526780.6:c.996G>C	ENSP00000435668.2:p.Leu332=
ENST00000527316.6:c.822G>C	ENSP00000435047.2:p.Leu274=
ENST00000682708.1:c.1047G>C	ENSP00000506866.1:p.Leu349=
ENST00000683287.1:c.1032G>C	ENSP00000507607.1:p.Leu344=
ENST00000683714.1:c.1004G>C	ENSP00000508207.1:p.Cys335Ser
ENST00000684396.1:n.1036G>C
ENST00000685320.1:c.411G>C	ENSP00000509319.1:p.Leu137=
ENST00000690257.1:c.900G>C	ENSP00000510750.1:p.Leu300=
ENST00000355527.8:c.996G>C MANE Select	ENSP00000347717.4:p.Leu332=
ENST00000355527.7:c.996G>C	ENSP00000347717.3:p.Leu332=
ENST00000407721.6:c.996G>C	ENSP00000384739.2:p.Leu332=
ENST00000525137.1:c.497G>C	ENSP00000435956.1:p.Cys166Ser
ENST00000533800.5:c.246G>C	ENSP00000435011.1:p.Leu82=
ENST00000534795.5:c.319+2005G>C
NM_001163817.1:c.996G>C	NP_001157289.1:p.Leu332=
NM_001360.2:c.996G>C , LRG_340t1:c.996G>C	NP_001351.2:p.Leu332=
XM_011544777.1:c.1130G>C	XP_011543079.1:p.Cys377Ser
XM_011544777.2:c.1130G>C	XP_011543079.1:p.Cys377Ser
NM_001163817.2:c.996G>C	NP_001157289.1:p.Leu332=
NM_001360.3:c.996G>C MANE Select	NP_001351.2:p.Leu332=