Canonical Allele Identifier: CA381703117

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148964C>T (hg19) ; chr11:g.71437918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437918C>T , CM000673.2:g.71437918C>T	GRCh38
NC_000011.9:g.71148964C>T , CM000673.1:g.71148964C>T	GRCh37
NC_000011.8:g.70826612C>T	NCBI36
NG_012655.2:g.15514G>A , LRG_340:g.15514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.857G>A	ENSP00000435707.3:p.Trp286Ter
ENST00000526780.6:c.857G>A	ENSP00000435668.2:p.Trp286Ter
ENST00000527316.6:c.683G>A	ENSP00000435047.2:p.Trp228Ter
ENST00000682708.1:c.908G>A	ENSP00000506866.1:p.Trp303Ter
ENST00000682880.1:c.857G>A	ENSP00000507520.1:p.Trp286Ter
ENST00000683287.1:c.893G>A	ENSP00000507607.1:p.Trp298Ter
ENST00000683714.1:c.857G>A	ENSP00000508207.1:p.Trp286Ter
ENST00000684396.1:n.897G>A
ENST00000685320.1:c.272G>A	ENSP00000509319.1:p.Trp91Ter
ENST00000690257.1:c.761G>A	ENSP00000510750.1:p.Trp254Ter
ENST00000355527.8:c.857G>A MANE Select	ENSP00000347717.4:p.Trp286Ter
ENST00000355527.7:c.857G>A	ENSP00000347717.3:p.Trp286Ter
ENST00000407721.6:c.857G>A	ENSP00000384739.2:p.Trp286Ter
ENST00000525137.1:c.224G>A	ENSP00000435956.1:p.Trp75Ter
ENST00000527316.5:c.761G>A	ENSP00000435047.1:p.Trp254Ter
ENST00000533800.5:c.107G>A	ENSP00000435011.1:p.Trp36Ter
ENST00000534795.5:c.213G>A
NM_001163817.1:c.857G>A	NP_001157289.1:p.Trp286Ter
NM_001360.2:c.857G>A , LRG_340t1:c.857G>A	NP_001351.2:p.Trp286Ter
XM_011544777.1:c.857G>A	XP_011543079.1:p.Trp286Ter
XM_011544777.2:c.857G>A	XP_011543079.1:p.Trp286Ter
NM_001163817.2:c.857G>A	NP_001157289.1:p.Trp286Ter
NM_001360.3:c.857G>A MANE Select	NP_001351.2:p.Trp286Ter