Canonical Allele Identifier: CA6162269

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 813482
• ClinVar RCV Id: RCV001004586
• dbSNP Id: rs140791666
• ExAC: 11:71146559 G / C
• gnomAD v2: 11-71146559-G-C
• gnomAD v4: 11-71435513-G-C
• MyVariant Identifiers: chr11:g.71146559G>C (hg19) ; chr11:g.71435513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435513G>C , CM000673.2:g.71435513G>C	GRCh38
NC_000011.9:g.71146559G>C , CM000673.1:g.71146559G>C	GRCh37
NC_000011.8:g.70824207G>C	NCBI36
NG_012655.2:g.17919C>G , LRG_340:g.17919C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1290C>G	ENSP00000435707.3:p.Tyr430Ter
ENST00000526780.6:c.1290C>G	ENSP00000435668.2:p.Tyr430Ter
ENST00000527316.6:c.1116C>G	ENSP00000435047.2:p.Tyr372Ter
ENST00000682708.1:c.1341C>G	ENSP00000506866.1:p.Tyr447Ter
ENST00000683287.1:c.1326C>G	ENSP00000507607.1:p.Tyr442Ter
ENST00000683714.1:c.*53C>G	ENSP00000508207.1:n.*53C>G
ENST00000684396.1:n.1330C>G
ENST00000685320.1:c.705C>G	ENSP00000509319.1:p.Tyr235Ter
ENST00000690257.1:c.1194C>G	ENSP00000510750.1:p.Tyr398Ter
ENST00000355527.8:c.1290C>G MANE Select	ENSP00000347717.4:p.Tyr430Ter
ENST00000355527.7:c.1290C>G	ENSP00000347717.3:p.Tyr430Ter
ENST00000407721.6:c.1290C>G	ENSP00000384739.2:p.Tyr430Ter
ENST00000525137.1:c.791C>G	ENSP00000435956.1:n.791C>G
ENST00000533800.5:c.540C>G	ENSP00000435011.1:p.Tyr180Ter
ENST00000534795.5:c.319+2299C>G
NM_001163817.1:c.1290C>G	NP_001157289.1:p.Tyr430Ter
NM_001360.2:c.1290C>G , LRG_340t1:c.1290C>G	NP_001351.2:p.Tyr430Ter
XM_011544777.1:c.*53C>G	XP_011543079.1:n.*53C>G
XM_011544777.2:c.*53C>G	XP_011543079.1:n.*53C>G
NM_001163817.2:c.1290C>G	NP_001157289.1:p.Tyr430Ter
NM_001360.3:c.1290C>G MANE Select	NP_001351.2:p.Tyr430Ter