Canonical Allele Identifier: CA6162415

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 287781
• ClinVar RCV Id: RCV000352664 ; RCV001088276 ; RCV003967772
• dbSNP Id: rs781026169
• ExAC: 11:71148966 G / A
• gnomAD v2: 11-71148966-G-A
• gnomAD v3: 11-71437920-G-A
• gnomAD v4: 11-71437920-G-A
• MyVariant Identifiers: chr11:g.71148966G>A (hg19) ; chr11:g.71437920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437920G>A , CM000673.2:g.71437920G>A	GRCh38
NC_000011.9:g.71148966G>A , CM000673.1:g.71148966G>A	GRCh37
NC_000011.8:g.70826614G>A	NCBI36
NG_012655.2:g.15512C>T , LRG_340:g.15512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.855C>T	ENSP00000435707.3:p.Phe285=
ENST00000526780.6:c.855C>T	ENSP00000435668.2:p.Phe285=
ENST00000527316.6:c.681C>T	ENSP00000435047.2:p.Phe227=
ENST00000682708.1:c.906C>T	ENSP00000506866.1:p.Phe302=
ENST00000682880.1:c.855C>T	ENSP00000507520.1:p.Phe285=
ENST00000683287.1:c.891C>T	ENSP00000507607.1:p.Phe297=
ENST00000683714.1:c.855C>T	ENSP00000508207.1:p.Phe285=
ENST00000684396.1:n.895C>T
ENST00000685320.1:c.270C>T	ENSP00000509319.1:p.Phe90=
ENST00000690257.1:c.759C>T	ENSP00000510750.1:p.Phe253=
ENST00000355527.8:c.855C>T MANE Select	ENSP00000347717.4:p.Phe285=
ENST00000355527.7:c.855C>T	ENSP00000347717.3:p.Phe285=
ENST00000407721.6:c.855C>T	ENSP00000384739.2:p.Phe285=
ENST00000525137.1:c.222C>T	ENSP00000435956.1:p.Phe74=
ENST00000527316.5:c.759C>T	ENSP00000435047.1:p.Phe253=
ENST00000533800.5:c.105C>T	ENSP00000435011.1:p.Phe35=
ENST00000534795.5:c.211C>T
NM_001163817.1:c.855C>T	NP_001157289.1:p.Phe285=
NM_001360.2:c.855C>T , LRG_340t1:c.855C>T	NP_001351.2:p.Phe285=
XM_011544777.1:c.855C>T	XP_011543079.1:p.Phe285=
XM_011544777.2:c.855C>T	XP_011543079.1:p.Phe285=
NM_001163817.2:c.855C>T	NP_001157289.1:p.Phe285=
NM_001360.3:c.855C>T MANE Select	NP_001351.2:p.Phe285=