Canonical Allele Identifier: CA6162300

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 595133
• ClinVar RCV Id: RCV000730599 ; RCV001088788 ; RCV002343597
• dbSNP Id: rs145084285
• ExAC: 11:71146697 G / A
• gnomAD v2: 11-71146697-G-A
• gnomAD v3: 11-71435651-G-A
• gnomAD v4: 11-71435651-G-A
• MyVariant Identifiers: chr11:g.71146697G>A (hg19) ; chr11:g.71435651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435651G>A , CM000673.2:g.71435651G>A	GRCh38
NC_000011.9:g.71146697G>A , CM000673.1:g.71146697G>A	GRCh37
NC_000011.8:g.70824345G>A	NCBI36
NG_012655.2:g.17781C>T , LRG_340:g.17781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1152C>T	ENSP00000435707.3:p.Ser384=
ENST00000526780.6:c.1152C>T	ENSP00000435668.2:p.Ser384=
ENST00000527316.6:c.978C>T	ENSP00000435047.2:p.Ser326=
ENST00000682708.1:c.1203C>T	ENSP00000506866.1:p.Ser401=
ENST00000683287.1:c.1188C>T	ENSP00000507607.1:p.Ser396=
ENST00000683714.1:c.1160C>T	ENSP00000508207.1:p.Pro387Leu
ENST00000684396.1:n.1192C>T
ENST00000685320.1:c.567C>T	ENSP00000509319.1:p.Ser189=
ENST00000690257.1:c.1056C>T	ENSP00000510750.1:p.Ser352=
ENST00000355527.8:c.1152C>T MANE Select	ENSP00000347717.4:p.Ser384=
ENST00000355527.7:c.1152C>T	ENSP00000347717.3:p.Ser384=
ENST00000407721.6:c.1152C>T	ENSP00000384739.2:p.Ser384=
ENST00000525137.1:c.653C>T	ENSP00000435956.1:p.Pro218Leu
ENST00000533800.5:c.402C>T	ENSP00000435011.1:p.Ser134=
ENST00000534795.5:c.319+2161C>T
NM_001163817.1:c.1152C>T	NP_001157289.1:p.Ser384=
NM_001360.2:c.1152C>T , LRG_340t1:c.1152C>T	NP_001351.2:p.Ser384=
XM_011544777.1:c.1286C>T	XP_011543079.1:p.Pro429Leu
XM_011544777.2:c.1286C>T	XP_011543079.1:p.Pro429Leu
NM_001163817.2:c.1152C>T	NP_001157289.1:p.Ser384=
NM_001360.3:c.1152C>T MANE Select	NP_001351.2:p.Ser384=