Canonical Allele Identifier: CA381702221

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146791A>C (hg19) ; chr11:g.71435745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435745A>C , CM000673.2:g.71435745A>C	GRCh38
NC_000011.9:g.71146791A>C , CM000673.1:g.71146791A>C	GRCh37
NC_000011.8:g.70824439A>C	NCBI36
NG_012655.2:g.17687T>G , LRG_340:g.17687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1058T>G	ENSP00000435707.3:p.Val353Gly
ENST00000526780.6:c.1058T>G	ENSP00000435668.2:p.Val353Gly
ENST00000527316.6:c.884T>G	ENSP00000435047.2:p.Val295Gly
ENST00000682708.1:c.1109T>G	ENSP00000506866.1:p.Val370Gly
ENST00000683287.1:c.1094T>G	ENSP00000507607.1:p.Val365Gly
ENST00000683714.1:c.1066T>G	ENSP00000508207.1:p.Trp356Gly
ENST00000684396.1:n.1098T>G
ENST00000685320.1:c.473T>G	ENSP00000509319.1:p.Val158Gly
ENST00000690257.1:c.962T>G	ENSP00000510750.1:p.Val321Gly
ENST00000355527.8:c.1058T>G MANE Select	ENSP00000347717.4:p.Val353Gly
ENST00000355527.7:c.1058T>G	ENSP00000347717.3:p.Val353Gly
ENST00000407721.6:c.1058T>G	ENSP00000384739.2:p.Val353Gly
ENST00000525137.1:c.559T>G	ENSP00000435956.1:p.Trp187Gly
ENST00000533800.5:c.308T>G	ENSP00000435011.1:p.Val103Gly
ENST00000534795.5:c.319+2067T>G
NM_001163817.1:c.1058T>G	NP_001157289.1:p.Val353Gly
NM_001360.2:c.1058T>G , LRG_340t1:c.1058T>G	NP_001351.2:p.Val353Gly
XM_011544777.1:c.1192T>G	XP_011543079.1:p.Trp398Gly
XM_011544777.2:c.1192T>G	XP_011543079.1:p.Trp398Gly
NM_001163817.2:c.1058T>G	NP_001157289.1:p.Val353Gly
NM_001360.3:c.1058T>G MANE Select	NP_001351.2:p.Val353Gly