Canonical Allele Identifier: CA6162416

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 289501
• ClinVar RCV Id: RCV000263526 ; RCV000394015 ; RCV003967791 ; RCV003380538
• dbSNP Id: rs148468879
• ExAC: 11:71148981 G / A
• gnomAD v2: 11-71148981-G-A
• gnomAD v3: 11-71437935-G-A
• gnomAD v4: 11-71437935-G-A
• MyVariant Identifiers: chr11:g.71148981G>A (hg19) ; chr11:g.71437935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437935G>A , CM000673.2:g.71437935G>A	GRCh38
NC_000011.9:g.71148981G>A , CM000673.1:g.71148981G>A	GRCh37
NC_000011.8:g.70826629G>A	NCBI36
NG_012655.2:g.15497C>T , LRG_340:g.15497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.840C>T	ENSP00000435707.3:p.Tyr280=
ENST00000526780.6:c.840C>T	ENSP00000435668.2:p.Tyr280=
ENST00000527316.6:c.666C>T	ENSP00000435047.2:p.Tyr222=
ENST00000682708.1:c.891C>T	ENSP00000506866.1:p.Tyr297=
ENST00000682880.1:c.840C>T	ENSP00000507520.1:p.Tyr280=
ENST00000683287.1:c.876C>T	ENSP00000507607.1:p.Tyr292=
ENST00000683714.1:c.840C>T	ENSP00000508207.1:p.Tyr280=
ENST00000684396.1:n.880C>T
ENST00000685320.1:c.255C>T	ENSP00000509319.1:p.Tyr85=
ENST00000690257.1:c.744C>T	ENSP00000510750.1:p.Tyr248=
ENST00000355527.8:c.840C>T MANE Select	ENSP00000347717.4:p.Tyr280=
ENST00000355527.7:c.840C>T	ENSP00000347717.3:p.Tyr280=
ENST00000407721.6:c.840C>T	ENSP00000384739.2:p.Tyr280=
ENST00000525137.1:c.207C>T	ENSP00000435956.1:p.Tyr69=
ENST00000527316.5:c.744C>T	ENSP00000435047.1:p.Tyr248=
ENST00000533800.5:c.90C>T	ENSP00000435011.1:p.Tyr30=
ENST00000534795.5:c.196C>T
NM_001163817.1:c.840C>T	NP_001157289.1:p.Tyr280=
NM_001360.2:c.840C>T , LRG_340t1:c.840C>T	NP_001351.2:p.Tyr280=
XM_011544777.1:c.840C>T	XP_011543079.1:p.Tyr280=
XM_011544777.2:c.840C>T	XP_011543079.1:p.Tyr280=
NM_001163817.2:c.840C>T	NP_001157289.1:p.Tyr280=
NM_001360.3:c.840C>T MANE Select	NP_001351.2:p.Tyr280=