Canonical Allele Identifier: CA6162281

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 551635
• ClinVar RCV Id: RCV000666753
• dbSNP Id: rs372055524
• ExAC: 11:71146618 C / T
• gnomAD v2: 11-71146618-C-T
• gnomAD v3: 11-71435572-C-T
• gnomAD v4: 11-71435572-C-T
• MyVariant Identifiers: chr11:g.71146618C>T (hg19) ; chr11:g.71435572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435572C>T , CM000673.2:g.71435572C>T	GRCh38
NC_000011.9:g.71146618C>T , CM000673.1:g.71146618C>T	GRCh37
NC_000011.8:g.70824266C>T	NCBI36
NG_012655.2:g.17860G>A , LRG_340:g.17860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1231G>A	ENSP00000435707.3:p.Asp411Asn
ENST00000526780.6:c.1231G>A	ENSP00000435668.2:p.Asp411Asn
ENST00000527316.6:c.1057G>A	ENSP00000435047.2:p.Asp353Asn
ENST00000682708.1:c.1282G>A	ENSP00000506866.1:p.Asp428Asn
ENST00000683287.1:c.1267G>A	ENSP00000507607.1:p.Asp423Asn
ENST00000683714.1:c.1239G>A	ENSP00000508207.1:p.Ala413=
ENST00000684396.1:n.1271G>A
ENST00000685320.1:c.646G>A	ENSP00000509319.1:p.Asp216Asn
ENST00000690257.1:c.1135G>A	ENSP00000510750.1:p.Asp379Asn
ENST00000355527.8:c.1231G>A MANE Select	ENSP00000347717.4:p.Asp411Asn
ENST00000355527.7:c.1231G>A	ENSP00000347717.3:p.Asp411Asn
ENST00000407721.6:c.1231G>A	ENSP00000384739.2:p.Asp411Asn
ENST00000525137.1:c.732G>A	ENSP00000435956.1:p.Ala244=
ENST00000533800.5:c.481G>A	ENSP00000435011.1:p.Asp161Asn
ENST00000534795.5:c.319+2240G>A
NM_001163817.1:c.1231G>A	NP_001157289.1:p.Asp411Asn
NM_001360.2:c.1231G>A , LRG_340t1:c.1231G>A	NP_001351.2:p.Asp411Asn
XM_011544777.1:c.1365G>A	XP_011543079.1:p.Ala455=
XM_011544777.2:c.1365G>A	XP_011543079.1:p.Ala455=
NM_001163817.2:c.1231G>A	NP_001157289.1:p.Asp411Asn
NM_001360.3:c.1231G>A MANE Select	NP_001351.2:p.Asp411Asn