Canonical Allele Identifier: CA381702952

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 587939
• ClinVar RCV Id: RCV002312420
• dbSNP Id: rs370955781
• MyVariant Identifiers: chr11:g.71148893C>G (hg19) ; chr11:g.71437847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437847C>G , CM000673.2:g.71437847C>G	GRCh38
NC_000011.9:g.71148893C>G , CM000673.1:g.71148893C>G	GRCh37
NC_000011.8:g.70826541C>G	NCBI36
NG_012655.2:g.15585G>C , LRG_340:g.15585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.928G>C	ENSP00000435707.3:p.Asp310His
ENST00000526780.6:c.928G>C	ENSP00000435668.2:p.Asp310His
ENST00000527316.6:c.754G>C	ENSP00000435047.2:p.Asp252His
ENST00000682708.1:c.979G>C	ENSP00000506866.1:p.Asp327His
ENST00000682880.1:c.928G>C	ENSP00000507520.1:p.Asp310His
ENST00000683287.1:c.964G>C	ENSP00000507607.1:p.Asp322His
ENST00000683714.1:c.928G>C	ENSP00000508207.1:p.Asp310His
ENST00000684396.1:n.968G>C
ENST00000685320.1:c.343G>C	ENSP00000509319.1:p.Asp115His
ENST00000690257.1:c.832G>C	ENSP00000510750.1:p.Asp278His
ENST00000355527.8:c.928G>C MANE Select	ENSP00000347717.4:p.Asp310His
ENST00000355527.7:c.928G>C	ENSP00000347717.3:p.Asp310His
ENST00000407721.6:c.928G>C	ENSP00000384739.2:p.Asp310His
ENST00000525137.1:c.295G>C	ENSP00000435956.1:p.Asp99His
ENST00000533800.5:c.178G>C	ENSP00000435011.1:p.Asp60His
ENST00000534795.5:c.284G>C
NM_001163817.1:c.928G>C	NP_001157289.1:p.Asp310His
NM_001360.2:c.928G>C , LRG_340t1:c.928G>C	NP_001351.2:p.Asp310His
XM_011544777.1:c.928G>C	XP_011543079.1:p.Asp310His
XM_011544777.2:c.928G>C	XP_011543079.1:p.Asp310His
NM_001163817.2:c.928G>C	NP_001157289.1:p.Asp310His
NM_001360.3:c.928G>C MANE Select	NP_001351.2:p.Asp310His