Canonical Allele Identifier: CA6162250

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1098789
• ClinVar RCV Id: RCV001420836 ; RCV001831472 ; RCV001664869
• dbSNP Id: rs140400648
• ExAC: 11:71146495 C / T
• gnomAD v2: 11-71146495-C-T
• gnomAD v3: 11-71435449-C-T
• gnomAD v4: 11-71435449-C-T
• MyVariant Identifiers: chr11:g.71146495C>T (hg19) ; chr11:g.71435449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435449C>T , CM000673.2:g.71435449C>T	GRCh38
NC_000011.9:g.71146495C>T , CM000673.1:g.71146495C>T	GRCh37
NC_000011.8:g.70824143C>T	NCBI36
NG_012655.2:g.17983G>A , LRG_340:g.17983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1354G>A	ENSP00000435707.3:p.Ala452Thr
ENST00000526780.6:c.1354G>A	ENSP00000435668.2:p.Ala452Thr
ENST00000527316.6:c.1180G>A	ENSP00000435047.2:p.Ala394Thr
ENST00000682708.1:c.1405G>A	ENSP00000506866.1:p.Ala469Thr
ENST00000683287.1:c.1390G>A	ENSP00000507607.1:p.Ala464Thr
ENST00000683714.1:c.*117G>A	ENSP00000508207.1:n.*117G>A
ENST00000684396.1:n.1394G>A
ENST00000685320.1:c.769G>A	ENSP00000509319.1:p.Ala257Thr
ENST00000690257.1:c.1258G>A	ENSP00000510750.1:p.Ala420Thr
ENST00000355527.8:c.1354G>A MANE Select	ENSP00000347717.4:p.Ala452Thr
ENST00000355527.7:c.1354G>A	ENSP00000347717.3:p.Ala452Thr
ENST00000407721.6:c.1354G>A	ENSP00000384739.2:p.Ala452Thr
ENST00000525137.1:c.855G>A	ENSP00000435956.1:n.855G>A
ENST00000533800.5:c.604G>A	ENSP00000435011.1:p.Ala202Thr
ENST00000534795.5:c.319+2363G>A
NM_001163817.1:c.1354G>A	NP_001157289.1:p.Ala452Thr
NM_001360.2:c.1354G>A , LRG_340t1:c.1354G>A	NP_001351.2:p.Ala452Thr
XM_011544777.1:c.*117G>A	XP_011543079.1:n.*117G>A
XM_011544777.2:c.*117G>A	XP_011543079.1:n.*117G>A
NM_001163817.2:c.1354G>A	NP_001157289.1:p.Ala452Thr
NM_001360.3:c.1354G>A MANE Select	NP_001351.2:p.Ala452Thr