Canonical Allele Identifier: CA381701551

Gene: DHCR7

Linked Data

• dbSNP Id: rs1205529414
• gnomAD v2: 11-71146653-A-T
• gnomAD v3: 11-71435607-A-T
• gnomAD v4: 11-71435607-A-T
• MyVariant Identifiers: chr11:g.71146653A>T (hg19) ; chr11:g.71435607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435607A>T , CM000673.2:g.71435607A>T	GRCh38
NC_000011.9:g.71146653A>T , CM000673.1:g.71146653A>T	GRCh37
NC_000011.8:g.70824301A>T	NCBI36
NG_012655.2:g.17825T>A , LRG_340:g.17825T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1196T>A	ENSP00000435707.3:p.Phe399Tyr
ENST00000526780.6:c.1196T>A	ENSP00000435668.2:p.Phe399Tyr
ENST00000527316.6:c.1022T>A	ENSP00000435047.2:p.Phe341Tyr
ENST00000682708.1:c.1247T>A	ENSP00000506866.1:p.Phe416Tyr
ENST00000683287.1:c.1232T>A	ENSP00000507607.1:p.Phe411Tyr
ENST00000683714.1:c.1204T>A	ENSP00000508207.1:p.Ser402Thr
ENST00000684396.1:n.1236T>A
ENST00000685320.1:c.611T>A	ENSP00000509319.1:p.Phe204Tyr
ENST00000690257.1:c.1100T>A	ENSP00000510750.1:p.Phe367Tyr
ENST00000355527.8:c.1196T>A MANE Select	ENSP00000347717.4:p.Phe399Tyr
ENST00000355527.7:c.1196T>A	ENSP00000347717.3:p.Phe399Tyr
ENST00000407721.6:c.1196T>A	ENSP00000384739.2:p.Phe399Tyr
ENST00000525137.1:c.697T>A	ENSP00000435956.1:p.Ser233Thr
ENST00000533800.5:c.446T>A	ENSP00000435011.1:p.Phe149Tyr
ENST00000534795.5:c.319+2205T>A
NM_001163817.1:c.1196T>A	NP_001157289.1:p.Phe399Tyr
NM_001360.2:c.1196T>A , LRG_340t1:c.1196T>A	NP_001351.2:p.Phe399Tyr
XM_011544777.1:c.1330T>A	XP_011543079.1:p.Ser444Thr
XM_011544777.2:c.1330T>A	XP_011543079.1:p.Ser444Thr
NM_001163817.2:c.1196T>A	NP_001157289.1:p.Phe399Tyr
NM_001360.3:c.1196T>A MANE Select	NP_001351.2:p.Phe399Tyr