Canonical Allele Identifier: CA381701894

Gene: DHCR7

Linked Data

• dbSNP Id: rs1278791188
• gnomAD v2: 11-71146717-T-C
• gnomAD v4: 11-71435671-T-C
• MyVariant Identifiers: chr11:g.71146717T>C (hg19) ; chr11:g.71435671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435671T>C , CM000673.2:g.71435671T>C	GRCh38
NC_000011.9:g.71146717T>C , CM000673.1:g.71146717T>C	GRCh37
NC_000011.8:g.70824365T>C	NCBI36
NG_012655.2:g.17761A>G , LRG_340:g.17761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1132A>G	ENSP00000435707.3:p.Ile378Val
ENST00000526780.6:c.1132A>G	ENSP00000435668.2:p.Ile378Val
ENST00000527316.6:c.958A>G	ENSP00000435047.2:p.Ile320Val
ENST00000682708.1:c.1183A>G	ENSP00000506866.1:p.Ile395Val
ENST00000683287.1:c.1168A>G	ENSP00000507607.1:p.Ile390Val
ENST00000683714.1:c.1140A>G	ENSP00000508207.1:p.Ser380=
ENST00000684396.1:n.1172A>G
ENST00000685320.1:c.547A>G	ENSP00000509319.1:p.Ile183Val
ENST00000690257.1:c.1036A>G	ENSP00000510750.1:p.Ile346Val
ENST00000355527.8:c.1132A>G MANE Select	ENSP00000347717.4:p.Ile378Val
ENST00000355527.7:c.1132A>G	ENSP00000347717.3:p.Ile378Val
ENST00000407721.6:c.1132A>G	ENSP00000384739.2:p.Ile378Val
ENST00000525137.1:c.633A>G	ENSP00000435956.1:p.Ser211=
ENST00000533800.5:c.382A>G	ENSP00000435011.1:p.Ile128Val
ENST00000534795.5:c.319+2141A>G
NM_001163817.1:c.1132A>G	NP_001157289.1:p.Ile378Val
NM_001360.2:c.1132A>G , LRG_340t1:c.1132A>G	NP_001351.2:p.Ile378Val
XM_011544777.1:c.1266A>G	XP_011543079.1:p.Ser422=
XM_011544777.2:c.1266A>G	XP_011543079.1:p.Ser422=
NM_001163817.2:c.1132A>G	NP_001157289.1:p.Ile378Val
NM_001360.3:c.1132A>G MANE Select	NP_001351.2:p.Ile378Val