Canonical Allele Identifier: CA381702486

Gene: DHCR7

Linked Data

• dbSNP Id: rs757518371
• gnomAD v3: 11-71435803-T-A
• gnomAD v4: 11-71435803-T-A
• MyVariant Identifiers: chr11:g.71146849T>A (hg19) ; chr11:g.71435803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435803T>A , CM000673.2:g.71435803T>A	GRCh38
NC_000011.9:g.71146849T>A , CM000673.1:g.71146849T>A	GRCh37
NC_000011.8:g.70824497T>A	NCBI36
NG_012655.2:g.17629A>T , LRG_340:g.17629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1000A>T	ENSP00000435707.3:p.Thr334Ser
ENST00000526780.6:c.1000A>T	ENSP00000435668.2:p.Thr334Ser
ENST00000527316.6:c.826A>T	ENSP00000435047.2:p.Thr276Ser
ENST00000682708.1:c.1051A>T	ENSP00000506866.1:p.Thr351Ser
ENST00000683287.1:c.1036A>T	ENSP00000507607.1:p.Thr346Ser
ENST00000683714.1:c.1008A>T	ENSP00000508207.1:p.Pro336=
ENST00000684396.1:n.1040A>T
ENST00000685320.1:c.415A>T	ENSP00000509319.1:p.Thr139Ser
ENST00000690257.1:c.904A>T	ENSP00000510750.1:p.Thr302Ser
ENST00000355527.8:c.1000A>T MANE Select	ENSP00000347717.4:p.Thr334Ser
ENST00000355527.7:c.1000A>T	ENSP00000347717.3:p.Thr334Ser
ENST00000407721.6:c.1000A>T	ENSP00000384739.2:p.Thr334Ser
ENST00000525137.1:c.501A>T	ENSP00000435956.1:p.Pro167=
ENST00000533800.5:c.250A>T	ENSP00000435011.1:p.Thr84Ser
ENST00000534795.5:c.319+2009A>T
NM_001163817.1:c.1000A>T	NP_001157289.1:p.Thr334Ser
NM_001360.2:c.1000A>T , LRG_340t1:c.1000A>T	NP_001351.2:p.Thr334Ser
XM_011544777.1:c.1134A>T	XP_011543079.1:p.Pro378=
XM_011544777.2:c.1134A>T	XP_011543079.1:p.Pro378=
NM_001163817.2:c.1000A>T	NP_001157289.1:p.Thr334Ser
NM_001360.3:c.1000A>T MANE Select	NP_001351.2:p.Thr334Ser