Canonical Allele Identifier: CA6162311

Gene: DHCR7

Linked Data

• dbSNP Id: rs760104729
• ExAC: 11:71146735 C / A
• gnomAD v2: 11-71146735-C-A
• gnomAD v4: 11-71435689-C-A
• MyVariant Identifiers: chr11:g.71146735C>A (hg19) ; chr11:g.71435689C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435689C>A , CM000673.2:g.71435689C>A	GRCh38
NC_000011.9:g.71146735C>A , CM000673.1:g.71146735C>A	GRCh37
NC_000011.8:g.70824383C>A	NCBI36
NG_012655.2:g.17743G>T , LRG_340:g.17743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1114G>T	ENSP00000435707.3:p.Gly372Cys
ENST00000526780.6:c.1114G>T	ENSP00000435668.2:p.Gly372Cys
ENST00000527316.6:c.940G>T	ENSP00000435047.2:p.Gly314Cys
ENST00000682708.1:c.1165G>T	ENSP00000506866.1:p.Gly389Cys
ENST00000683287.1:c.1150G>T	ENSP00000507607.1:p.Gly384Cys
ENST00000683714.1:c.1122G>T	ENSP00000508207.1:p.Gly374=
ENST00000684396.1:n.1154G>T
ENST00000685320.1:c.529G>T	ENSP00000509319.1:p.Gly177Cys
ENST00000690257.1:c.1018G>T	ENSP00000510750.1:p.Gly340Cys
ENST00000355527.8:c.1114G>T MANE Select	ENSP00000347717.4:p.Gly372Cys
ENST00000355527.7:c.1114G>T	ENSP00000347717.3:p.Gly372Cys
ENST00000407721.6:c.1114G>T	ENSP00000384739.2:p.Gly372Cys
ENST00000525137.1:c.615G>T	ENSP00000435956.1:p.Gly205=
ENST00000533800.5:c.364G>T	ENSP00000435011.1:p.Gly122Cys
ENST00000534795.5:c.319+2123G>T
NM_001163817.1:c.1114G>T	NP_001157289.1:p.Gly372Cys
NM_001360.2:c.1114G>T , LRG_340t1:c.1114G>T	NP_001351.2:p.Gly372Cys
XM_011544777.1:c.1248G>T	XP_011543079.1:p.Gly416=
XM_011544777.2:c.1248G>T	XP_011543079.1:p.Gly416=
NM_001163817.2:c.1114G>T	NP_001157289.1:p.Gly372Cys
NM_001360.3:c.1114G>T MANE Select	NP_001351.2:p.Gly372Cys