Canonical Allele Identifier: CA6162558

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1109762
• ClinVar RCV Id: RCV001435724
• dbSNP Id: rs758693177
• ExAC: 11:71152457 G / A
• gnomAD v2: 11-71152457-G-A
• gnomAD v3: 11-71441411-G-A
• gnomAD v4: 11-71441411-G-A
• MyVariant Identifiers: chr11:g.71152457G>A (hg19) ; chr11:g.71441411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441411G>A , CM000673.2:g.71441411G>A	GRCh38
NC_000011.9:g.71152457G>A , CM000673.1:g.71152457G>A	GRCh37
NC_000011.8:g.70830105G>A	NCBI36
NG_012655.2:g.12021C>T , LRG_340:g.12021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.442C>T	ENSP00000435707.3:p.Leu148=
ENST00000526780.6:c.442C>T	ENSP00000435668.2:p.Leu148=
ENST00000527316.6:c.268C>T	ENSP00000435047.2:p.Leu90=
ENST00000682708.1:c.442C>T	ENSP00000506866.1:p.Leu148=
ENST00000682880.1:c.442C>T	ENSP00000507520.1:p.Leu148=
ENST00000683287.1:c.478C>T	ENSP00000507607.1:p.Leu160=
ENST00000683714.1:c.442C>T	ENSP00000508207.1:p.Leu148=
ENST00000683874.1:n.719C>T
ENST00000685320.1:c.-144C>T	ENSP00000509319.1:n.-144C>T
ENST00000690257.1:c.346C>T	ENSP00000510750.1:p.Leu116=
ENST00000355527.8:c.442C>T MANE Select	ENSP00000347717.4:p.Leu148=
ENST00000355527.7:c.442C>T	ENSP00000347717.3:p.Leu148=
ENST00000407721.6:c.442C>T	ENSP00000384739.2:p.Leu148=
ENST00000526780.5:c.442C>T	ENSP00000435668.1:p.Leu148=
ENST00000527316.5:c.346C>T	ENSP00000435047.1:p.Leu116=
NM_001163817.1:c.442C>T	NP_001157289.1:p.Leu148=
NM_001360.2:c.442C>T , LRG_340t1:c.442C>T	NP_001351.2:p.Leu148=
XM_011544777.1:c.442C>T	XP_011543079.1:p.Leu148=
XM_011544777.2:c.442C>T	XP_011543079.1:p.Leu148=
NM_001163817.2:c.442C>T	NP_001157289.1:p.Leu148=
NM_001360.3:c.442C>T MANE Select	NP_001351.2:p.Leu148=