Canonical Allele Identifier: CA381702016

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2035539
• ClinVar RCV Id: RCV002877547
• dbSNP Id: rs1169626168
• COSMIC: COSM4458988 ; COSM4458989
• MyVariant Identifiers: chr11:g.71146742G>A (hg19) ; chr11:g.71435696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435696G>A , CM000673.2:g.71435696G>A	GRCh38
NC_000011.9:g.71146742G>A , CM000673.1:g.71146742G>A	GRCh37
NC_000011.8:g.70824390G>A	NCBI36
NG_012655.2:g.17736C>T , LRG_340:g.17736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1107C>T	ENSP00000435707.3:p.Leu369=
ENST00000526780.6:c.1107C>T	ENSP00000435668.2:p.Leu369=
ENST00000527316.6:c.933C>T	ENSP00000435047.2:p.Leu311=
ENST00000682708.1:c.1158C>T	ENSP00000506866.1:p.Leu386=
ENST00000683287.1:c.1143C>T	ENSP00000507607.1:p.Leu381=
ENST00000683714.1:c.1115C>T	ENSP00000508207.1:p.Ser372Leu
ENST00000684396.1:n.1147C>T
ENST00000685320.1:c.522C>T	ENSP00000509319.1:p.Leu174=
ENST00000690257.1:c.1011C>T	ENSP00000510750.1:p.Leu337=
ENST00000355527.8:c.1107C>T MANE Select	ENSP00000347717.4:p.Leu369=
ENST00000355527.7:c.1107C>T	ENSP00000347717.3:p.Leu369=
ENST00000407721.6:c.1107C>T	ENSP00000384739.2:p.Leu369=
ENST00000525137.1:c.608C>T	ENSP00000435956.1:p.Ser203Leu
ENST00000533800.5:c.357C>T	ENSP00000435011.1:p.Leu119=
ENST00000534795.5:c.319+2116C>T
NM_001163817.1:c.1107C>T	NP_001157289.1:p.Leu369=
NM_001360.2:c.1107C>T , LRG_340t1:c.1107C>T	NP_001351.2:p.Leu369=
XM_011544777.1:c.1241C>T	XP_011543079.1:p.Ser414Leu
XM_011544777.2:c.1241C>T	XP_011543079.1:p.Ser414Leu
NM_001163817.2:c.1107C>T	NP_001157289.1:p.Leu369=
NM_001360.3:c.1107C>T MANE Select	NP_001351.2:p.Leu369=