Canonical Allele Identifier: CA475519638

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1945921
• ClinVar RCV Id: RCV002680935
• MyVariant Identifiers: chr11:g.71153343T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442297T>C , CM000673.2:g.71442297T>C	GRCh38
NC_000011.9:g.71153343T>C , CM000673.1:g.71153343T>C	GRCh37
NC_000011.8:g.70830991T>C	NCBI36
NG_012655.2:g.11135A>G , LRG_340:g.11135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.378A>G	ENSP00000435707.3:p.Val126=
ENST00000526780.6:c.378A>G	ENSP00000435668.2:p.Val126=
ENST00000527316.6:c.204A>G	ENSP00000435047.2:p.Val68=
ENST00000682708.1:c.378A>G	ENSP00000506866.1:p.Val126=
ENST00000682880.1:c.378A>G	ENSP00000507520.1:p.Val126=
ENST00000683287.1:c.414A>G	ENSP00000507607.1:p.Val138=
ENST00000683714.1:c.378A>G	ENSP00000508207.1:p.Val126=
ENST00000683874.1:n.655A>G
ENST00000685320.1:c.-208A>G	ENSP00000509319.1:n.-208A>G
ENST00000690257.1:c.282A>G	ENSP00000510750.1:p.Val94=
ENST00000355527.8:c.378A>G MANE Select	ENSP00000347717.4:p.Val126=
ENST00000355527.7:c.378A>G	ENSP00000347717.3:p.Val126=
ENST00000407721.6:c.378A>G	ENSP00000384739.2:p.Val126=
ENST00000526780.5:c.378A>G	ENSP00000435668.1:p.Val126=
ENST00000527316.5:c.282A>G	ENSP00000435047.1:p.Val94=
NM_001163817.1:c.378A>G	NP_001157289.1:p.Val126=
NM_001360.2:c.378A>G , LRG_340t1:c.378A>G	NP_001351.2:p.Val126=
XM_011544777.1:c.378A>G	XP_011543079.1:p.Val126=
XM_011544777.2:c.378A>G	XP_011543079.1:p.Val126=
NM_001163817.2:c.378A>G	NP_001157289.1:p.Val126=
NM_001360.3:c.378A>G MANE Select	NP_001351.2:p.Val126=