Canonical Allele Identifier: CA6162267

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1506319
• ClinVar RCV Id: RCV002006640
• dbSNP Id: rs747656720
• ExAC: 11:71146555 A / G
• gnomAD v2: 11-71146555-A-G
• gnomAD v4: 11-71435509-A-G
• MyVariant Identifiers: chr11:g.71146555A>G (hg19) ; chr11:g.71435509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435509A>G , CM000673.2:g.71435509A>G	GRCh38
NC_000011.9:g.71146555A>G , CM000673.1:g.71146555A>G	GRCh37
NC_000011.8:g.70824203A>G	NCBI36
NG_012655.2:g.17923T>C , LRG_340:g.17923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1294T>C	ENSP00000435707.3:p.Tyr432His
ENST00000526780.6:c.1294T>C	ENSP00000435668.2:p.Tyr432His
ENST00000527316.6:c.1120T>C	ENSP00000435047.2:p.Tyr374His
ENST00000682708.1:c.1345T>C	ENSP00000506866.1:p.Tyr449His
ENST00000683287.1:c.1330T>C	ENSP00000507607.1:p.Tyr444His
ENST00000683714.1:c.*57T>C	ENSP00000508207.1:n.*57T>C
ENST00000684396.1:n.1334T>C
ENST00000685320.1:c.709T>C	ENSP00000509319.1:p.Tyr237His
ENST00000690257.1:c.1198T>C	ENSP00000510750.1:p.Tyr400His
ENST00000355527.8:c.1294T>C MANE Select	ENSP00000347717.4:p.Tyr432His
ENST00000355527.7:c.1294T>C	ENSP00000347717.3:p.Tyr432His
ENST00000407721.6:c.1294T>C	ENSP00000384739.2:p.Tyr432His
ENST00000525137.1:c.795T>C	ENSP00000435956.1:n.795T>C
ENST00000533800.5:c.544T>C	ENSP00000435011.1:p.Tyr182His
ENST00000534795.5:c.319+2303T>C
NM_001163817.1:c.1294T>C	NP_001157289.1:p.Tyr432His
NM_001360.2:c.1294T>C , LRG_340t1:c.1294T>C	NP_001351.2:p.Tyr432His
XM_011544777.1:c.*57T>C	XP_011543079.1:n.*57T>C
XM_011544777.2:c.*57T>C	XP_011543079.1:n.*57T>C
NM_001163817.2:c.1294T>C	NP_001157289.1:p.Tyr432His
NM_001360.3:c.1294T>C MANE Select	NP_001351.2:p.Tyr432His