Canonical Allele Identifier: CA16041552
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370988
ClinVar RCV Id: RCV000409593
dbSNP Id: rs1057516920
MyVariant Identifiers: chr11:g.71149923A>T (hg19) chr11:g.71438877A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71438877A>T , CM000673.2:g.71438877A>T GRCh38
NC_000011.9:g.71149923A>T , CM000673.1:g.71149923A>T GRCh37
NC_000011.8:g.70827571A>T NCBI36
NG_012655.2:g.14555T>A , LRG_340:g.14555T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.831+2T>A ENSP00000435707.3:n.831+2T>A
ENST00000526780.6:c.831+2T>A ENSP00000435668.2:n.831+2T>A
ENST00000527316.6:c.657+2T>A ENSP00000435047.2:n.657+2T>A
ENST00000682708.1:c.882+2T>A ENSP00000506866.1:n.882+2T>A
ENST00000682880.1:c.831+2T>A ENSP00000507520.1:n.831+2T>A
ENST00000683287.1:c.867+2T>A ENSP00000507607.1:n.867+2T>A
ENST00000683714.1:c.831+2T>A ENSP00000508207.1:n.831+2T>A
ENST00000684396.1:n.871+2T>A
ENST00000685320.1:c.246+2T>A ENSP00000509319.1:n.246+2T>A
ENST00000690257.1:c.735+2T>A ENSP00000510750.1:n.735+2T>A
ENST00000355527.8:c.831+2T>A MANE Select ENSP00000347717.4:n.831+2T>A
ENST00000355527.7:c.831+2T>A ENSP00000347717.3:n.831+2T>A
ENST00000407721.6:c.831+2T>A ENSP00000384739.2:n.831+2T>A
ENST00000525137.1:c.198+2T>A ENSP00000435956.1:n.198+2T>A
ENST00000527316.5:c.735+2T>A ENSP00000435047.1:n.735+2T>A
ENST00000533800.5:c.81+2T>A ENSP00000435011.1:n.81+2T>A
ENST00000534701.1:n.328T>A
ENST00000534795.5:c.187+2T>A
NM_001163817.1:c.831+2T>A NP_001157289.1:n.831+2T>A
NM_001360.2:c.831+2T>A , LRG_340t1:c.831+2T>A NP_001351.2:n.831+2T>A
XM_011544777.1:c.831+2T>A XP_011543079.1:n.831+2T>A
XM_011544777.2:c.831+2T>A XP_011543079.1:n.831+2T>A
NM_001163817.2:c.831+2T>A NP_001157289.1:n.831+2T>A
NM_001360.3:c.831+2T>A MANE Select NP_001351.2:n.831+2T>A
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