Canonical Allele Identifier: CA6162289

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 596840
• ClinVar RCV Id: RCV000732800 ; RCV002343603 ; RCV002535292
• dbSNP Id: rs368867929
• ExAC: 11:71146646 G / A
• gnomAD v2: 11-71146646-G-A
• gnomAD v3: 11-71435600-G-A
• gnomAD v4: 11-71435600-G-A
• MyVariant Identifiers: chr11:g.71146646G>A (hg19) ; chr11:g.71435600G>A (hg38)
• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435600G>A , CM000673.2:g.71435600G>A	GRCh38
NC_000011.9:g.71146646G>A , CM000673.1:g.71146646G>A	GRCh37
NC_000011.8:g.70824294G>A	NCBI36
NG_012655.2:g.17832C>T , LRG_340:g.17832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1203C>T	ENSP00000435707.3:p.Gly401=
ENST00000526780.6:c.1203C>T	ENSP00000435668.2:p.Gly401=
ENST00000527316.6:c.1029C>T	ENSP00000435047.2:p.Gly343=
ENST00000682708.1:c.1254C>T	ENSP00000506866.1:p.Gly418=
ENST00000683287.1:c.1239C>T	ENSP00000507607.1:p.Gly413=
ENST00000683714.1:c.1211C>T	ENSP00000508207.1:p.Ala404Val
ENST00000684396.1:n.1243C>T
ENST00000685320.1:c.618C>T	ENSP00000509319.1:p.Gly206=
ENST00000690257.1:c.1107C>T	ENSP00000510750.1:p.Gly369=
ENST00000355527.8:c.1203C>T MANE Select	ENSP00000347717.4:p.Gly401=
ENST00000355527.7:c.1203C>T	ENSP00000347717.3:p.Gly401=
ENST00000407721.6:c.1203C>T	ENSP00000384739.2:p.Gly401=
ENST00000525137.1:c.704C>T	ENSP00000435956.1:p.Ala235Val
ENST00000533800.5:c.453C>T	ENSP00000435011.1:p.Gly151=
ENST00000534795.5:c.319+2212C>T
NM_001163817.1:c.1203C>T	NP_001157289.1:p.Gly401=
NM_001360.2:c.1203C>T , LRG_340t1:c.1203C>T	NP_001351.2:p.Gly401=
XM_011544777.1:c.1337C>T	XP_011543079.1:p.Ala446Val
XM_011544777.2:c.1337C>T	XP_011543079.1:p.Ala446Val
NM_001163817.2:c.1203C>T	NP_001157289.1:p.Gly401=
NM_001360.3:c.1203C>T MANE Select	NP_001351.2:p.Gly401=