Canonical Allele Identifier: CA6162262

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1066741
• ClinVar RCV Id: RCV001377821 ; RCV002291753 ; RCV003898362
• dbSNP Id: rs781687341
• ExAC: 11:71146521 C / A
• gnomAD v2: 11-71146521-C-A
• gnomAD v3: 11-71435475-C-A
• gnomAD v4: 11-71435475-C-A
• MyVariant Identifiers: chr11:g.71146521C>A (hg19) ; chr11:g.71435475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435475C>A , CM000673.2:g.71435475C>A	GRCh38
NC_000011.9:g.71146521C>A , CM000673.1:g.71146521C>A	GRCh37
NC_000011.8:g.70824169C>A	NCBI36
NG_012655.2:g.17957G>T , LRG_340:g.17957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1328G>T	ENSP00000435707.3:p.Arg443Leu
ENST00000526780.6:c.1328G>T	ENSP00000435668.2:p.Arg443Leu
ENST00000527316.6:c.1154G>T	ENSP00000435047.2:p.Arg385Leu
ENST00000682708.1:c.1379G>T	ENSP00000506866.1:p.Arg460Leu
ENST00000683287.1:c.1364G>T	ENSP00000507607.1:p.Arg455Leu
ENST00000683714.1:c.*91G>T	ENSP00000508207.1:n.*91G>T
ENST00000684396.1:n.1368G>T
ENST00000685320.1:c.743G>T	ENSP00000509319.1:p.Arg248Leu
ENST00000690257.1:c.1232G>T	ENSP00000510750.1:p.Arg411Leu
ENST00000355527.8:c.1328G>T MANE Select	ENSP00000347717.4:p.Arg443Leu
ENST00000355527.7:c.1328G>T	ENSP00000347717.3:p.Arg443Leu
ENST00000407721.6:c.1328G>T	ENSP00000384739.2:p.Arg443Leu
ENST00000525137.1:c.829G>T	ENSP00000435956.1:n.829G>T
ENST00000533800.5:c.578G>T	ENSP00000435011.1:p.Arg193Leu
ENST00000534795.5:c.319+2337G>T
NM_001163817.1:c.1328G>T	NP_001157289.1:p.Arg443Leu
NM_001360.2:c.1328G>T , LRG_340t1:c.1328G>T	NP_001351.2:p.Arg443Leu
XM_011544777.1:c.*91G>T	XP_011543079.1:n.*91G>T
XM_011544777.2:c.*91G>T	XP_011543079.1:n.*91G>T
NM_001163817.2:c.1328G>T	NP_001157289.1:p.Arg443Leu
NM_001360.3:c.1328G>T MANE Select	NP_001351.2:p.Arg443Leu