Canonical Allele Identifier: CA1139662079
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 882743
ClinVar RCV Id: RCV001112677
dbSNP Id: rs1024548576

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71434652G>T , CM000673.2:g.71434652G>T GRCh38
NC_000011.9:g.71145698G>T , CM000673.1:g.71145698G>T GRCh37
NC_000011.8:g.70823346G>T NCBI36
NG_012655.2:g.18780C>A , LRG_340:g.18780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.*723C>A ENSP00000435707.3:n.*723C>A
ENST00000526780.6:c.*723C>A ENSP00000435668.2:n.*723C>A
ENST00000682708.1:c.*723C>A ENSP00000506866.1:n.*723C>A
ENST00000683287.1:c.*723C>A ENSP00000507607.1:n.*723C>A
ENST00000683714.1:c.*914C>A ENSP00000508207.1:n.*914C>A
ENST00000684396.1:n.2191C>A
ENST00000685320.1:c.*723C>A ENSP00000509319.1:n.*723C>A
ENST00000690257.1:c.*723C>A ENSP00000510750.1:n.*723C>A
ENST00000355527.8:c.*723C>A MANE Select ENSP00000347717.4:n.*723C>A
ENST00000355527.7:c.*723C>A ENSP00000347717.3:n.*723C>A
ENST00000407721.6:c.*723C>A ENSP00000384739.2:n.*723C>A
ENST00000534795.5:c.319+3160C>A
NM_001163817.1:c.*723C>A NP_001157289.1:n.*723C>A
NM_001360.2:c.*723C>A , LRG_340t1:c.*723C>A NP_001351.2:n.*723C>A
XM_011544777.1:c.*914C>A XP_011543079.1:n.*914C>A
XM_011544777.2:c.*914C>A XP_011543079.1:n.*914C>A
NM_001163817.2:c.*723C>A NP_001157289.1:n.*723C>A
NM_001360.3:c.*723C>A MANE Select NP_001351.2:n.*723C>A