Canonical Allele Identifier: CA381701936

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1798633
• ClinVar RCV Id: RCV002435604
• MyVariant Identifiers: chr11:g.71146725G>C (hg19) ; chr11:g.71435679G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435679G>C , CM000673.2:g.71435679G>C	GRCh38
NC_000011.9:g.71146725G>C , CM000673.1:g.71146725G>C	GRCh37
NC_000011.8:g.70824373G>C	NCBI36
NG_012655.2:g.17753C>G , LRG_340:g.17753C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1124C>G	ENSP00000435707.3:p.Pro375Arg
ENST00000526780.6:c.1124C>G	ENSP00000435668.2:p.Pro375Arg
ENST00000527316.6:c.950C>G	ENSP00000435047.2:p.Pro317Arg
ENST00000682708.1:c.1175C>G	ENSP00000506866.1:p.Pro392Arg
ENST00000683287.1:c.1160C>G	ENSP00000507607.1:p.Pro387Arg
ENST00000683714.1:c.1132C>G	ENSP00000508207.1:p.Pro378Ala
ENST00000684396.1:n.1164C>G
ENST00000685320.1:c.539C>G	ENSP00000509319.1:p.Pro180Arg
ENST00000690257.1:c.1028C>G	ENSP00000510750.1:p.Pro343Arg
ENST00000355527.8:c.1124C>G MANE Select	ENSP00000347717.4:p.Pro375Arg
ENST00000355527.7:c.1124C>G	ENSP00000347717.3:p.Pro375Arg
ENST00000407721.6:c.1124C>G	ENSP00000384739.2:p.Pro375Arg
ENST00000525137.1:c.625C>G	ENSP00000435956.1:p.Pro209Ala
ENST00000533800.5:c.374C>G	ENSP00000435011.1:p.Pro125Arg
ENST00000534795.5:c.319+2133C>G
NM_001163817.1:c.1124C>G	NP_001157289.1:p.Pro375Arg
NM_001360.2:c.1124C>G , LRG_340t1:c.1124C>G	NP_001351.2:p.Pro375Arg
XM_011544777.1:c.1258C>G	XP_011543079.1:p.Pro420Ala
XM_011544777.2:c.1258C>G	XP_011543079.1:p.Pro420Ala
NM_001163817.2:c.1124C>G	NP_001157289.1:p.Pro375Arg
NM_001360.3:c.1124C>G MANE Select	NP_001351.2:p.Pro375Arg