Canonical Allele Identifier: CA475520584

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2892471
• ClinVar RCV Id: RCV003618841
• MyVariant Identifiers: chr11:g.71155222T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444176T>C , CM000673.2:g.71444176T>C	GRCh38
NC_000011.9:g.71155222T>C , CM000673.1:g.71155222T>C	GRCh37
NC_000011.8:g.70832870T>C	NCBI36
NG_012655.2:g.9256A>G , LRG_340:g.9256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.138A>G	ENSP00000435707.3:p.Leu46=
ENST00000526780.6:c.138A>G	ENSP00000435668.2:p.Leu46=
ENST00000527316.6:c.-37A>G	ENSP00000435047.2:n.-37A>G
ENST00000529990.6:c.-37A>G	ENSP00000435058.2:n.-37A>G
ENST00000682708.1:c.138A>G	ENSP00000506866.1:p.Leu46=
ENST00000682880.1:c.138A>G	ENSP00000507520.1:p.Leu46=
ENST00000683287.1:c.138A>G	ENSP00000507607.1:p.Leu46=
ENST00000683714.1:c.138A>G	ENSP00000508207.1:p.Leu46=
ENST00000683874.1:n.415A>G
ENST00000685320.1:c.-333-115A>G	ENSP00000509319.1:n.-333-115A>G
ENST00000690257.1:c.99-57A>G	ENSP00000510750.1:n.99-57A>G
ENST00000355527.8:c.138A>G MANE Select	ENSP00000347717.4:p.Leu46=
ENST00000355527.7:c.138A>G	ENSP00000347717.3:p.Leu46=
ENST00000407721.6:c.138A>G	ENSP00000384739.2:p.Leu46=
ENST00000525346.5:c.138A>G	ENSP00000435707.2:p.Leu46=
ENST00000526780.5:c.138A>G	ENSP00000435668.1:p.Leu46=
ENST00000527316.5:c.99-57A>G	ENSP00000435047.1:n.99-57A>G
ENST00000527452.1:c.138A>G	ENSP00000436007.1:p.Leu46=
ENST00000529990.5:c.78A>G	ENSP00000435058.1:p.Leu26=
ENST00000531364.5:c.138A>G	ENSP00000432589.1:p.Leu46=
NM_001163817.1:c.138A>G	NP_001157289.1:p.Leu46=
NM_001360.2:c.138A>G , LRG_340t1:c.138A>G	NP_001351.2:p.Leu46=
XM_011544777.1:c.138A>G	XP_011543079.1:p.Leu46=
XM_011544777.2:c.138A>G	XP_011543079.1:p.Leu46=
NM_001163817.2:c.138A>G	NP_001157289.1:p.Leu46=
NM_001360.3:c.138A>G MANE Select	NP_001351.2:p.Leu46=