Canonical Allele Identifier: CA381702372

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435777-C-T
• MyVariant Identifiers: chr11:g.71146823C>T (hg19) ; chr11:g.71435777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435777C>T , CM000673.2:g.71435777C>T	GRCh38
NC_000011.9:g.71146823C>T , CM000673.1:g.71146823C>T	GRCh37
NC_000011.8:g.70824471C>T	NCBI36
NG_012655.2:g.17655G>A , LRG_340:g.17655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1026G>A	ENSP00000435707.3:p.Leu342=
ENST00000526780.6:c.1026G>A	ENSP00000435668.2:p.Leu342=
ENST00000527316.6:c.852G>A	ENSP00000435047.2:p.Leu284=
ENST00000682708.1:c.1077G>A	ENSP00000506866.1:p.Leu359=
ENST00000683287.1:c.1062G>A	ENSP00000507607.1:p.Leu354=
ENST00000683714.1:c.1034G>A	ENSP00000508207.1:p.Cys345Tyr
ENST00000684396.1:n.1066G>A
ENST00000685320.1:c.441G>A	ENSP00000509319.1:p.Leu147=
ENST00000690257.1:c.930G>A	ENSP00000510750.1:p.Leu310=
ENST00000355527.8:c.1026G>A MANE Select	ENSP00000347717.4:p.Leu342=
ENST00000355527.7:c.1026G>A	ENSP00000347717.3:p.Leu342=
ENST00000407721.6:c.1026G>A	ENSP00000384739.2:p.Leu342=
ENST00000525137.1:c.527G>A	ENSP00000435956.1:p.Cys176Tyr
ENST00000533800.5:c.276G>A	ENSP00000435011.1:p.Leu92=
ENST00000534795.5:c.319+2035G>A
NM_001163817.1:c.1026G>A	NP_001157289.1:p.Leu342=
NM_001360.2:c.1026G>A , LRG_340t1:c.1026G>A	NP_001351.2:p.Leu342=
XM_011544777.1:c.1160G>A	XP_011543079.1:p.Cys387Tyr
XM_011544777.2:c.1160G>A	XP_011543079.1:p.Cys387Tyr
NM_001163817.2:c.1026G>A	NP_001157289.1:p.Leu342=
NM_001360.3:c.1026G>A MANE Select	NP_001351.2:p.Leu342=