Canonical Allele Identifier: CA381701628

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435623-G-C
• MyVariant Identifiers: chr11:g.71146669G>C (hg19) ; chr11:g.71435623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435623G>C , CM000673.2:g.71435623G>C	GRCh38
NC_000011.9:g.71146669G>C , CM000673.1:g.71146669G>C	GRCh37
NC_000011.8:g.70824317G>C	NCBI36
NG_012655.2:g.17809C>G , LRG_340:g.17809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1180C>G	ENSP00000435707.3:p.Leu394Val
ENST00000526780.6:c.1180C>G	ENSP00000435668.2:p.Leu394Val
ENST00000527316.6:c.1006C>G	ENSP00000435047.2:p.Leu336Val
ENST00000682708.1:c.1231C>G	ENSP00000506866.1:p.Leu411Val
ENST00000683287.1:c.1216C>G	ENSP00000507607.1:p.Leu406Val
ENST00000683714.1:c.1188C>G	ENSP00000508207.1:p.Ser396Arg
ENST00000684396.1:n.1220C>G
ENST00000685320.1:c.595C>G	ENSP00000509319.1:p.Leu199Val
ENST00000690257.1:c.1084C>G	ENSP00000510750.1:p.Leu362Val
ENST00000355527.8:c.1180C>G MANE Select	ENSP00000347717.4:p.Leu394Val
ENST00000355527.7:c.1180C>G	ENSP00000347717.3:p.Leu394Val
ENST00000407721.6:c.1180C>G	ENSP00000384739.2:p.Leu394Val
ENST00000525137.1:c.681C>G	ENSP00000435956.1:p.Ser227Arg
ENST00000533800.5:c.430C>G	ENSP00000435011.1:p.Leu144Val
ENST00000534795.5:c.319+2189C>G
NM_001163817.1:c.1180C>G	NP_001157289.1:p.Leu394Val
NM_001360.2:c.1180C>G , LRG_340t1:c.1180C>G	NP_001351.2:p.Leu394Val
XM_011544777.1:c.1314C>G	XP_011543079.1:p.Ser438Arg
XM_011544777.2:c.1314C>G	XP_011543079.1:p.Ser438Arg
NM_001163817.2:c.1180C>G	NP_001157289.1:p.Leu394Val
NM_001360.3:c.1180C>G MANE Select	NP_001351.2:p.Leu394Val