Canonical Allele Identifier: CA6162342

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 420113
• ClinVar RCV Id: RCV000727172 ; RCV001193584 ; RCV001843524 ; RCV000763768 ; RCV003419794
• dbSNP Id: rs139724817
• ExAC: 11:71146861 C / T
• gnomAD v2: 11-71146861-C-T
• gnomAD v3: 11-71435815-C-T
• gnomAD v4: 11-71435815-C-T
• MyVariant Identifiers: chr11:g.71146861C>T (hg19) ; chr11:g.71435815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435815C>T , CM000673.2:g.71435815C>T	GRCh38
NC_000011.9:g.71146861C>T , CM000673.1:g.71146861C>T	GRCh37
NC_000011.8:g.70824509C>T	NCBI36
NG_012655.2:g.17617G>A , LRG_340:g.17617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.988G>A	ENSP00000435707.3:p.Val330Met
ENST00000526780.6:c.988G>A	ENSP00000435668.2:p.Val330Met
ENST00000527316.6:c.814G>A	ENSP00000435047.2:p.Val272Met
ENST00000682708.1:c.1039G>A	ENSP00000506866.1:p.Val347Met
ENST00000683287.1:c.1024G>A	ENSP00000507607.1:p.Val342Met
ENST00000683714.1:c.996G>A	ENSP00000508207.1:p.Pro332=
ENST00000684396.1:n.1028G>A
ENST00000685320.1:c.403G>A	ENSP00000509319.1:p.Val135Met
ENST00000690257.1:c.892G>A	ENSP00000510750.1:p.Val298Met
ENST00000355527.8:c.988G>A MANE Select	ENSP00000347717.4:p.Val330Met
ENST00000355527.7:c.988G>A	ENSP00000347717.3:p.Val330Met
ENST00000407721.6:c.988G>A	ENSP00000384739.2:p.Val330Met
ENST00000525137.1:c.489G>A	ENSP00000435956.1:p.Pro163=
ENST00000533800.5:c.238G>A	ENSP00000435011.1:p.Val80Met
ENST00000534795.5:c.319+1997G>A
NM_001163817.1:c.988G>A	NP_001157289.1:p.Val330Met
NM_001360.2:c.988G>A , LRG_340t1:c.988G>A	NP_001351.2:p.Val330Met
XM_011544777.1:c.1122G>A	XP_011543079.1:p.Pro374=
XM_011544777.2:c.1122G>A	XP_011543079.1:p.Pro374=
NM_001163817.2:c.988G>A	NP_001157289.1:p.Val330Met
NM_001360.3:c.988G>A MANE Select	NP_001351.2:p.Val330Met