Canonical Allele Identifier: CA381702528

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1077467
• ClinVar RCV Id: RCV001392045
• dbSNP Id: rs145901607
• MyVariant Identifiers: chr11:g.71146862G>C (hg19) ; chr11:g.71435816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435816G>C , CM000673.2:g.71435816G>C	GRCh38
NC_000011.9:g.71146862G>C , CM000673.1:g.71146862G>C	GRCh37
NC_000011.8:g.70824510G>C	NCBI36
NG_012655.2:g.17616C>G , LRG_340:g.17616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.987C>G	ENSP00000435707.3:p.Pro329=
ENST00000526780.6:c.987C>G	ENSP00000435668.2:p.Pro329=
ENST00000527316.6:c.813C>G	ENSP00000435047.2:p.Pro271=
ENST00000682708.1:c.1038C>G	ENSP00000506866.1:p.Pro346=
ENST00000683287.1:c.1023C>G	ENSP00000507607.1:p.Pro341=
ENST00000683714.1:c.995C>G	ENSP00000508207.1:p.Pro332Arg
ENST00000684396.1:n.1027C>G
ENST00000685320.1:c.402C>G	ENSP00000509319.1:p.Pro134=
ENST00000690257.1:c.891C>G	ENSP00000510750.1:p.Pro297=
ENST00000355527.8:c.987C>G MANE Select	ENSP00000347717.4:p.Pro329=
ENST00000355527.7:c.987C>G	ENSP00000347717.3:p.Pro329=
ENST00000407721.6:c.987C>G	ENSP00000384739.2:p.Pro329=
ENST00000525137.1:c.488C>G	ENSP00000435956.1:p.Pro163Arg
ENST00000533800.5:c.237C>G	ENSP00000435011.1:p.Pro79=
ENST00000534795.5:c.319+1996C>G
NM_001163817.1:c.987C>G	NP_001157289.1:p.Pro329=
NM_001360.2:c.987C>G , LRG_340t1:c.987C>G	NP_001351.2:p.Pro329=
XM_011544777.1:c.1121C>G	XP_011543079.1:p.Pro374Arg
XM_011544777.2:c.1121C>G	XP_011543079.1:p.Pro374Arg
NM_001163817.2:c.987C>G	NP_001157289.1:p.Pro329=
NM_001360.3:c.987C>G MANE Select	NP_001351.2:p.Pro329=