Canonical Allele Identifier: CA224326391

Gene: DHCR7

Linked Data

• dbSNP Id: rs866363497
• gnomAD v4: 11-71437711-G-A
• MyVariant Identifiers: chr11:g.71148757G>A (hg19) ; chr11:g.71437711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437711G>A , CM000673.2:g.71437711G>A	GRCh38
NC_000011.9:g.71148757G>A , CM000673.1:g.71148757G>A	GRCh37
NC_000011.8:g.70826405G>A	NCBI36
NG_012655.2:g.15721C>T , LRG_340:g.15721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.963+101C>T	ENSP00000435707.3:n.963+101C>T
ENST00000526780.6:c.963+101C>T	ENSP00000435668.2:n.963+101C>T
ENST00000527316.6:c.789+101C>T	ENSP00000435047.2:n.789+101C>T
ENST00000682708.1:c.1014+101C>T	ENSP00000506866.1:n.1014+101C>T
ENST00000682880.1:c.1064C>T	ENSP00000507520.1:p.Pro355Leu
ENST00000683287.1:c.999+101C>T	ENSP00000507607.1:n.999+101C>T
ENST00000683714.1:c.971+93C>T	ENSP00000508207.1:n.971+93C>T
ENST00000684396.1:n.1003+101C>T
ENST00000685320.1:c.378+101C>T	ENSP00000509319.1:n.378+101C>T
ENST00000690257.1:c.867+101C>T	ENSP00000510750.1:n.867+101C>T
ENST00000355527.8:c.963+101C>T MANE Select	ENSP00000347717.4:n.963+101C>T
ENST00000355527.7:c.963+101C>T	ENSP00000347717.3:n.963+101C>T
ENST00000407721.6:c.963+101C>T	ENSP00000384739.2:n.963+101C>T
ENST00000525137.1:c.330+101C>T	ENSP00000435956.1:n.330+101C>T
ENST00000533800.5:c.213+101C>T	ENSP00000435011.1:n.213+101C>T
ENST00000534795.5:c.319+101C>T
NM_001163817.1:c.963+101C>T	NP_001157289.1:n.963+101C>T
NM_001360.2:c.963+101C>T , LRG_340t1:c.963+101C>T	NP_001351.2:n.963+101C>T
XM_011544777.1:c.963+101C>T	XP_011543079.1:n.963+101C>T
XM_011544777.2:c.963+101C>T	XP_011543079.1:n.963+101C>T
NM_001163817.2:c.963+101C>T	NP_001157289.1:n.963+101C>T
NM_001360.3:c.963+101C>T MANE Select	NP_001351.2:n.963+101C>T