Canonical Allele Identifier: CA475860949

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1921051
• ClinVar RCV Id: RCV002608588
• gnomAD v4: 11-71435519-C-G
• MyVariant Identifiers: chr11:g.71146565C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435519C>G , CM000673.2:g.71435519C>G	GRCh38
NC_000011.9:g.71146565C>G , CM000673.1:g.71146565C>G	GRCh37
NC_000011.8:g.70824213C>G	NCBI36
NG_012655.2:g.17913G>C , LRG_340:g.17913G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1284G>C	ENSP00000435707.3:p.Leu428=
ENST00000526780.6:c.1284G>C	ENSP00000435668.2:p.Leu428=
ENST00000527316.6:c.1110G>C	ENSP00000435047.2:p.Leu370=
ENST00000682708.1:c.1335G>C	ENSP00000506866.1:p.Leu445=
ENST00000683287.1:c.1320G>C	ENSP00000507607.1:p.Leu440=
ENST00000683714.1:c.*47G>C	ENSP00000508207.1:n.*47G>C
ENST00000684396.1:n.1324G>C
ENST00000685320.1:c.699G>C	ENSP00000509319.1:p.Leu233=
ENST00000690257.1:c.1188G>C	ENSP00000510750.1:p.Leu396=
ENST00000355527.8:c.1284G>C MANE Select	ENSP00000347717.4:p.Leu428=
ENST00000355527.7:c.1284G>C	ENSP00000347717.3:p.Leu428=
ENST00000407721.6:c.1284G>C	ENSP00000384739.2:p.Leu428=
ENST00000525137.1:c.785G>C	ENSP00000435956.1:n.785G>C
ENST00000533800.5:c.534G>C	ENSP00000435011.1:p.Leu178=
ENST00000534795.5:c.319+2293G>C
NM_001163817.1:c.1284G>C	NP_001157289.1:p.Leu428=
NM_001360.2:c.1284G>C , LRG_340t1:c.1284G>C	NP_001351.2:p.Leu428=
XM_011544777.1:c.*47G>C	XP_011543079.1:n.*47G>C
XM_011544777.2:c.*47G>C	XP_011543079.1:n.*47G>C
NM_001163817.2:c.1284G>C	NP_001157289.1:p.Leu428=
NM_001360.3:c.1284G>C MANE Select	NP_001351.2:p.Leu428=