Canonical Allele Identifier: CA147236

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 93709
• ClinVar RCV Id: RCV000079642 ; RCV000512660 ; RCV001084025
• dbSNP Id: rs139721775
• ExAC: 11:71146508 G / A
• gnomAD v2: 11-71146508-G-A
• gnomAD v3: 11-71435462-G-A
• gnomAD v4: 11-71435462-G-A
• MyVariant Identifiers: chr11:g.71146508G>A (hg19) ; chr11:g.71435462G>A (hg38)
• PubMed: PMID:11111101 ; PMID:11241839 ; PMID:12914579

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435462G>A , CM000673.2:g.71435462G>A	GRCh38
NC_000011.9:g.71146508G>A , CM000673.1:g.71146508G>A	GRCh37
NC_000011.8:g.70824156G>A	NCBI36
NG_012655.2:g.17970C>T , LRG_340:g.17970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1341C>T	ENSP00000435707.3:p.Asp447=
ENST00000526780.6:c.1341C>T	ENSP00000435668.2:p.Asp447=
ENST00000527316.6:c.1167C>T	ENSP00000435047.2:p.Asp389=
ENST00000682708.1:c.1392C>T	ENSP00000506866.1:p.Asp464=
ENST00000683287.1:c.1377C>T	ENSP00000507607.1:p.Asp459=
ENST00000683714.1:c.*104C>T	ENSP00000508207.1:n.*104C>T
ENST00000684396.1:n.1381C>T
ENST00000685320.1:c.756C>T	ENSP00000509319.1:p.Asp252=
ENST00000690257.1:c.1245C>T	ENSP00000510750.1:p.Asp415=
ENST00000355527.8:c.1341C>T MANE Select	ENSP00000347717.4:p.Asp447=
ENST00000355527.7:c.1341C>T	ENSP00000347717.3:p.Asp447=
ENST00000407721.6:c.1341C>T	ENSP00000384739.2:p.Asp447=
ENST00000525137.1:c.842C>T	ENSP00000435956.1:n.842C>T
ENST00000533800.5:c.591C>T	ENSP00000435011.1:p.Asp197=
ENST00000534795.5:c.319+2350C>T
NM_001163817.1:c.1341C>T	NP_001157289.1:p.Asp447=
NM_001360.2:c.1341C>T , LRG_340t1:c.1341C>T	NP_001351.2:p.Asp447=
XM_011544777.1:c.*104C>T	XP_011543079.1:n.*104C>T
XM_011544777.2:c.*104C>T	XP_011543079.1:n.*104C>T
NM_001163817.2:c.1341C>T	NP_001157289.1:p.Asp447=
NM_001360.3:c.1341C>T MANE Select	NP_001351.2:p.Asp447=