Canonical Allele Identifier: CA381702030

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146746C>T (hg19) ; chr11:g.71435700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435700C>T , CM000673.2:g.71435700C>T	GRCh38
NC_000011.9:g.71146746C>T , CM000673.1:g.71146746C>T	GRCh37
NC_000011.8:g.70824394C>T	NCBI36
NG_012655.2:g.17732G>A , LRG_340:g.17732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1103G>A	ENSP00000435707.3:p.Cys368Tyr
ENST00000526780.6:c.1103G>A	ENSP00000435668.2:p.Cys368Tyr
ENST00000527316.6:c.929G>A	ENSP00000435047.2:p.Cys310Tyr
ENST00000682708.1:c.1154G>A	ENSP00000506866.1:p.Cys385Tyr
ENST00000683287.1:c.1139G>A	ENSP00000507607.1:p.Cys380Tyr
ENST00000683714.1:c.1111G>A	ENSP00000508207.1:p.Ala371Thr
ENST00000684396.1:n.1143G>A
ENST00000685320.1:c.518G>A	ENSP00000509319.1:p.Cys173Tyr
ENST00000690257.1:c.1007G>A	ENSP00000510750.1:p.Cys336Tyr
ENST00000355527.8:c.1103G>A MANE Select	ENSP00000347717.4:p.Cys368Tyr
ENST00000355527.7:c.1103G>A	ENSP00000347717.3:p.Cys368Tyr
ENST00000407721.6:c.1103G>A	ENSP00000384739.2:p.Cys368Tyr
ENST00000525137.1:c.604G>A	ENSP00000435956.1:p.Ala202Thr
ENST00000533800.5:c.353G>A	ENSP00000435011.1:p.Cys118Tyr
ENST00000534795.5:c.319+2112G>A
NM_001163817.1:c.1103G>A	NP_001157289.1:p.Cys368Tyr
NM_001360.2:c.1103G>A , LRG_340t1:c.1103G>A	NP_001351.2:p.Cys368Tyr
XM_011544777.1:c.1237G>A	XP_011543079.1:p.Ala413Thr
XM_011544777.2:c.1237G>A	XP_011543079.1:p.Ala413Thr
NM_001163817.2:c.1103G>A	NP_001157289.1:p.Cys368Tyr
NM_001360.3:c.1103G>A MANE Select	NP_001351.2:p.Cys368Tyr