Canonical Allele Identifier: CA248059

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 199067
• ClinVar RCV Id: RCV000513082 ; RCV002054152
• dbSNP Id: rs368150818
• ExAC: 11:71146579 C / T
• gnomAD v2: 11-71146579-C-T
• gnomAD v3: 11-71435533-C-T
• gnomAD v4: 11-71435533-C-T
• COSMIC: COSM5732205 ; COSM5732206
• MyVariant Identifiers: chr11:g.71146579C>T (hg19) ; chr11:g.71435533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435533C>T , CM000673.2:g.71435533C>T	GRCh38
NC_000011.9:g.71146579C>T , CM000673.1:g.71146579C>T	GRCh37
NC_000011.8:g.70824227C>T	NCBI36
NG_012655.2:g.17899G>A , LRG_340:g.17899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1270G>A	ENSP00000435707.3:p.Gly424Ser
ENST00000526780.6:c.1270G>A	ENSP00000435668.2:p.Gly424Ser
ENST00000527316.6:c.1096G>A	ENSP00000435047.2:p.Gly366Ser
ENST00000682708.1:c.1321G>A	ENSP00000506866.1:p.Gly441Ser
ENST00000683287.1:c.1306G>A	ENSP00000507607.1:p.Gly436Ser
ENST00000683714.1:c.*33G>A	ENSP00000508207.1:n.*33G>A
ENST00000684396.1:n.1310G>A
ENST00000685320.1:c.685G>A	ENSP00000509319.1:p.Gly229Ser
ENST00000690257.1:c.1174G>A	ENSP00000510750.1:p.Gly392Ser
ENST00000355527.8:c.1270G>A MANE Select	ENSP00000347717.4:p.Gly424Ser
ENST00000355527.7:c.1270G>A	ENSP00000347717.3:p.Gly424Ser
ENST00000407721.6:c.1270G>A	ENSP00000384739.2:p.Gly424Ser
ENST00000525137.1:c.771G>A	ENSP00000435956.1:n.771G>A
ENST00000533800.5:c.520G>A	ENSP00000435011.1:p.Gly174Ser
ENST00000534795.5:c.319+2279G>A
NM_001163817.1:c.1270G>A	NP_001157289.1:p.Gly424Ser
NM_001360.2:c.1270G>A , LRG_340t1:c.1270G>A	NP_001351.2:p.Gly424Ser
XM_011544777.1:c.*33G>A	XP_011543079.1:n.*33G>A
XM_011544777.2:c.*33G>A	XP_011543079.1:n.*33G>A
NM_001163817.2:c.1270G>A	NP_001157289.1:p.Gly424Ser
NM_001360.3:c.1270G>A MANE Select	NP_001351.2:p.Gly424Ser