Canonical Allele Identifier: CA381701053

Gene: DHCR7

Linked Data

• dbSNP Id: rs1485535452
• gnomAD v2: 11-71146560-T-A
• gnomAD v4: 11-71435514-T-A
• MyVariant Identifiers: chr11:g.71146560T>A (hg19) ; chr11:g.71435514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435514T>A , CM000673.2:g.71435514T>A	GRCh38
NC_000011.9:g.71146560T>A , CM000673.1:g.71146560T>A	GRCh37
NC_000011.8:g.70824208T>A	NCBI36
NG_012655.2:g.17918A>T , LRG_340:g.17918A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1289A>T	ENSP00000435707.3:p.Tyr430Phe
ENST00000526780.6:c.1289A>T	ENSP00000435668.2:p.Tyr430Phe
ENST00000527316.6:c.1115A>T	ENSP00000435047.2:p.Tyr372Phe
ENST00000682708.1:c.1340A>T	ENSP00000506866.1:p.Tyr447Phe
ENST00000683287.1:c.1325A>T	ENSP00000507607.1:p.Tyr442Phe
ENST00000683714.1:c.*52A>T	ENSP00000508207.1:n.*52A>T
ENST00000684396.1:n.1329A>T
ENST00000685320.1:c.704A>T	ENSP00000509319.1:p.Tyr235Phe
ENST00000690257.1:c.1193A>T	ENSP00000510750.1:p.Tyr398Phe
ENST00000355527.8:c.1289A>T MANE Select	ENSP00000347717.4:p.Tyr430Phe
ENST00000355527.7:c.1289A>T	ENSP00000347717.3:p.Tyr430Phe
ENST00000407721.6:c.1289A>T	ENSP00000384739.2:p.Tyr430Phe
ENST00000525137.1:c.790A>T	ENSP00000435956.1:n.790A>T
ENST00000533800.5:c.539A>T	ENSP00000435011.1:p.Tyr180Phe
ENST00000534795.5:c.319+2298A>T
NM_001163817.1:c.1289A>T	NP_001157289.1:p.Tyr430Phe
NM_001360.2:c.1289A>T , LRG_340t1:c.1289A>T	NP_001351.2:p.Tyr430Phe
XM_011544777.1:c.*52A>T	XP_011543079.1:n.*52A>T
XM_011544777.2:c.*52A>T	XP_011543079.1:n.*52A>T
NM_001163817.2:c.1289A>T	NP_001157289.1:p.Tyr430Phe
NM_001360.3:c.1289A>T MANE Select	NP_001351.2:p.Tyr430Phe