Canonical Allele Identifier: CA381701014

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 990549
• ClinVar RCV Id: RCV001278594
• dbSNP Id: rs1565584679
• MyVariant Identifiers: chr11:g.71146554T>A (hg19) ; chr11:g.71435508T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435508T>A , CM000673.2:g.71435508T>A	GRCh38
NC_000011.9:g.71146554T>A , CM000673.1:g.71146554T>A	GRCh37
NC_000011.8:g.70824202T>A	NCBI36
NG_012655.2:g.17924A>T , LRG_340:g.17924A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1295A>T	ENSP00000435707.3:p.Tyr432Phe
ENST00000526780.6:c.1295A>T	ENSP00000435668.2:p.Tyr432Phe
ENST00000527316.6:c.1121A>T	ENSP00000435047.2:p.Tyr374Phe
ENST00000682708.1:c.1346A>T	ENSP00000506866.1:p.Tyr449Phe
ENST00000683287.1:c.1331A>T	ENSP00000507607.1:p.Tyr444Phe
ENST00000683714.1:c.*58A>T	ENSP00000508207.1:n.*58A>T
ENST00000684396.1:n.1335A>T
ENST00000685320.1:c.710A>T	ENSP00000509319.1:p.Tyr237Phe
ENST00000690257.1:c.1199A>T	ENSP00000510750.1:p.Tyr400Phe
ENST00000355527.8:c.1295A>T MANE Select	ENSP00000347717.4:p.Tyr432Phe
ENST00000355527.7:c.1295A>T	ENSP00000347717.3:p.Tyr432Phe
ENST00000407721.6:c.1295A>T	ENSP00000384739.2:p.Tyr432Phe
ENST00000525137.1:c.796A>T	ENSP00000435956.1:n.796A>T
ENST00000533800.5:c.545A>T	ENSP00000435011.1:p.Tyr182Phe
ENST00000534795.5:c.319+2304A>T
NM_001163817.1:c.1295A>T	NP_001157289.1:p.Tyr432Phe
NM_001360.2:c.1295A>T , LRG_340t1:c.1295A>T	NP_001351.2:p.Tyr432Phe
XM_011544777.1:c.*58A>T	XP_011543079.1:n.*58A>T
XM_011544777.2:c.*58A>T	XP_011543079.1:n.*58A>T
NM_001163817.2:c.1295A>T	NP_001157289.1:p.Tyr432Phe
NM_001360.3:c.1295A>T MANE Select	NP_001351.2:p.Tyr432Phe