Canonical Allele Identifier: CA6162284

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1455236
• ClinVar RCV Id: RCV001942267
• dbSNP Id: rs746591926
• ExAC: 11:71146629 T / C
• gnomAD v2: 11-71146629-T-C
• gnomAD v3: 11-71435583-T-C
• gnomAD v4: 11-71435583-T-C
• MyVariant Identifiers: chr11:g.71146629T>C (hg19) ; chr11:g.71435583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435583T>C , CM000673.2:g.71435583T>C	GRCh38
NC_000011.9:g.71146629T>C , CM000673.1:g.71146629T>C	GRCh37
NC_000011.8:g.70824277T>C	NCBI36
NG_012655.2:g.17849A>G , LRG_340:g.17849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1220A>G	ENSP00000435707.3:p.Asn407Ser
ENST00000526780.6:c.1220A>G	ENSP00000435668.2:p.Asn407Ser
ENST00000527316.6:c.1046A>G	ENSP00000435047.2:p.Asn349Ser
ENST00000682708.1:c.1271A>G	ENSP00000506866.1:p.Asn424Ser
ENST00000683287.1:c.1256A>G	ENSP00000507607.1:p.Asn419Ser
ENST00000683714.1:c.1228A>G	ENSP00000508207.1:p.Thr410Ala
ENST00000684396.1:n.1260A>G
ENST00000685320.1:c.635A>G	ENSP00000509319.1:p.Asn212Ser
ENST00000690257.1:c.1124A>G	ENSP00000510750.1:p.Asn375Ser
ENST00000355527.8:c.1220A>G MANE Select	ENSP00000347717.4:p.Asn407Ser
ENST00000355527.7:c.1220A>G	ENSP00000347717.3:p.Asn407Ser
ENST00000407721.6:c.1220A>G	ENSP00000384739.2:p.Asn407Ser
ENST00000525137.1:c.721A>G	ENSP00000435956.1:p.Thr241Ala
ENST00000533800.5:c.470A>G	ENSP00000435011.1:p.Asn157Ser
ENST00000534795.5:c.319+2229A>G
NM_001163817.1:c.1220A>G	NP_001157289.1:p.Asn407Ser
NM_001360.2:c.1220A>G , LRG_340t1:c.1220A>G	NP_001351.2:p.Asn407Ser
XM_011544777.1:c.1354A>G	XP_011543079.1:p.Thr452Ala
XM_011544777.2:c.1354A>G	XP_011543079.1:p.Thr452Ala
NM_001163817.2:c.1220A>G	NP_001157289.1:p.Asn407Ser
NM_001360.3:c.1220A>G MANE Select	NP_001351.2:p.Asn407Ser