Canonical Allele Identifier: CA224324239

Gene: DHCR7

Linked Data

• dbSNP Id: rs78523425
• COSMIC: COSM4591658 ; COSM4591659
• MyVariant Identifiers: chr11:g.71146651A>C (hg19) ; chr11:g.71435605A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435605A>C , CM000673.2:g.71435605A>C	GRCh38
NC_000011.9:g.71146651A>C , CM000673.1:g.71146651A>C	GRCh37
NC_000011.8:g.70824299A>C	NCBI36
NG_012655.2:g.17827T>G , LRG_340:g.17827T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1198T>G	ENSP00000435707.3:p.Trp400Gly
ENST00000526780.6:c.1198T>G	ENSP00000435668.2:p.Trp400Gly
ENST00000527316.6:c.1024T>G	ENSP00000435047.2:p.Trp342Gly
ENST00000682708.1:c.1249T>G	ENSP00000506866.1:p.Trp417Gly
ENST00000683287.1:c.1234T>G	ENSP00000507607.1:p.Trp412Gly
ENST00000683714.1:c.1206T>G	ENSP00000508207.1:p.Ser402=
ENST00000684396.1:n.1238T>G
ENST00000685320.1:c.613T>G	ENSP00000509319.1:p.Trp205Gly
ENST00000690257.1:c.1102T>G	ENSP00000510750.1:p.Trp368Gly
ENST00000355527.8:c.1198T>G MANE Select	ENSP00000347717.4:p.Trp400Gly
ENST00000355527.7:c.1198T>G	ENSP00000347717.3:p.Trp400Gly
ENST00000407721.6:c.1198T>G	ENSP00000384739.2:p.Trp400Gly
ENST00000525137.1:c.699T>G	ENSP00000435956.1:p.Ser233=
ENST00000533800.5:c.448T>G	ENSP00000435011.1:p.Trp150Gly
ENST00000534795.5:c.319+2207T>G
NM_001163817.1:c.1198T>G	NP_001157289.1:p.Trp400Gly
NM_001360.2:c.1198T>G , LRG_340t1:c.1198T>G	NP_001351.2:p.Trp400Gly
XM_011544777.1:c.1332T>G	XP_011543079.1:p.Ser444=
XM_011544777.2:c.1332T>G	XP_011543079.1:p.Ser444=
NM_001163817.2:c.1198T>G	NP_001157289.1:p.Trp400Gly
NM_001360.3:c.1198T>G MANE Select	NP_001351.2:p.Trp400Gly