Canonical Allele Identifier: CA6162293

Gene: DHCR7

Linked Data

• dbSNP Id: rs766943022
• ExAC: 11:71146680 T / C
• gnomAD v2: 11-71146680-T-C
• gnomAD v4: 11-71435634-T-C
• MyVariant Identifiers: chr11:g.71146680T>C (hg19) ; chr11:g.71435634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435634T>C , CM000673.2:g.71435634T>C	GRCh38
NC_000011.9:g.71146680T>C , CM000673.1:g.71146680T>C	GRCh37
NC_000011.8:g.70824328T>C	NCBI36
NG_012655.2:g.17798A>G , LRG_340:g.17798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1169A>G	ENSP00000435707.3:p.His390Arg
ENST00000526780.6:c.1169A>G	ENSP00000435668.2:p.His390Arg
ENST00000527316.6:c.995A>G	ENSP00000435047.2:p.His332Arg
ENST00000682708.1:c.1220A>G	ENSP00000506866.1:p.His407Arg
ENST00000683287.1:c.1205A>G	ENSP00000507607.1:p.His402Arg
ENST00000683714.1:c.1177A>G	ENSP00000508207.1:p.Thr393Ala
ENST00000684396.1:n.1209A>G
ENST00000685320.1:c.584A>G	ENSP00000509319.1:p.His195Arg
ENST00000690257.1:c.1073A>G	ENSP00000510750.1:p.His358Arg
ENST00000355527.8:c.1169A>G MANE Select	ENSP00000347717.4:p.His390Arg
ENST00000355527.7:c.1169A>G	ENSP00000347717.3:p.His390Arg
ENST00000407721.6:c.1169A>G	ENSP00000384739.2:p.His390Arg
ENST00000525137.1:c.670A>G	ENSP00000435956.1:p.Thr224Ala
ENST00000533800.5:c.419A>G	ENSP00000435011.1:p.His140Arg
ENST00000534795.5:c.319+2178A>G
NM_001163817.1:c.1169A>G	NP_001157289.1:p.His390Arg
NM_001360.2:c.1169A>G , LRG_340t1:c.1169A>G	NP_001351.2:p.His390Arg
XM_011544777.1:c.1303A>G	XP_011543079.1:p.Thr435Ala
XM_011544777.2:c.1303A>G	XP_011543079.1:p.Thr435Ala
NM_001163817.2:c.1169A>G	NP_001157289.1:p.His390Arg
NM_001360.3:c.1169A>G MANE Select	NP_001351.2:p.His390Arg