Canonical Allele Identifier: CA381696328

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2707266
• ClinVar RCV Id: RCV003508112
• MyVariant Identifiers: chr11:g.71155112G>T (hg19) ; chr11:g.71444066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444066G>T , CM000673.2:g.71444066G>T	GRCh38
NC_000011.9:g.71155112G>T , CM000673.1:g.71155112G>T	GRCh37
NC_000011.8:g.70832760G>T	NCBI36
NG_012655.2:g.9366C>A , LRG_340:g.9366C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.248C>A	ENSP00000435707.3:p.Ser83Ter
ENST00000526780.6:c.248C>A	ENSP00000435668.2:p.Ser83Ter
ENST00000527316.6:c.74C>A	ENSP00000435047.2:p.Ser25Ter
ENST00000529990.6:c.74C>A	ENSP00000435058.2:p.Ser25Ter
ENST00000682708.1:c.248C>A	ENSP00000506866.1:p.Ser83Ter
ENST00000682880.1:c.248C>A	ENSP00000507520.1:p.Ser83Ter
ENST00000683287.1:c.248C>A	ENSP00000507607.1:p.Ser83Ter
ENST00000683714.1:c.248C>A	ENSP00000508207.1:p.Ser83Ter
ENST00000683874.1:n.525C>A
ENST00000685320.1:c.-333-5C>A	ENSP00000509319.1:n.-333-5C>A
ENST00000690257.1:c.152C>A	ENSP00000510750.1:p.Ser51Ter
ENST00000355527.8:c.248C>A MANE Select	ENSP00000347717.4:p.Ser83Ter
ENST00000355527.7:c.248C>A	ENSP00000347717.3:p.Ser83Ter
ENST00000407721.6:c.248C>A	ENSP00000384739.2:p.Ser83Ter
ENST00000525346.5:c.248C>A	ENSP00000435707.2:p.Ser83Ter
ENST00000526780.5:c.248C>A	ENSP00000435668.1:p.Ser83Ter
ENST00000527316.5:c.152C>A	ENSP00000435047.1:p.Ser51Ter
ENST00000527452.1:c.248C>A	ENSP00000436007.1:p.Ser83Ter
ENST00000529990.5:c.188C>A	ENSP00000435058.1:p.Ser63Ter
ENST00000531364.5:c.248C>A	ENSP00000432589.1:p.Ser83Ter
NM_001163817.1:c.248C>A	NP_001157289.1:p.Ser83Ter
NM_001360.2:c.248C>A , LRG_340t1:c.248C>A	NP_001351.2:p.Ser83Ter
XM_011544777.1:c.248C>A	XP_011543079.1:p.Ser83Ter
XM_011544777.2:c.248C>A	XP_011543079.1:p.Ser83Ter
NM_001163817.2:c.248C>A	NP_001157289.1:p.Ser83Ter
NM_001360.3:c.248C>A MANE Select	NP_001351.2:p.Ser83Ter