Canonical Allele Identifier: CA381700849

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1066076
• ClinVar RCV Id: RCV001376981
• dbSNP Id: rs2135939533
• MyVariant Identifiers: chr11:g.71146525G>C (hg19) ; chr11:g.71435479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435479G>C , CM000673.2:g.71435479G>C	GRCh38
NC_000011.9:g.71146525G>C , CM000673.1:g.71146525G>C	GRCh37
NC_000011.8:g.70824173G>C	NCBI36
NG_012655.2:g.17953C>G , LRG_340:g.17953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1324C>G	ENSP00000435707.3:p.His442Asp
ENST00000526780.6:c.1324C>G	ENSP00000435668.2:p.His442Asp
ENST00000527316.6:c.1150C>G	ENSP00000435047.2:p.His384Asp
ENST00000682708.1:c.1375C>G	ENSP00000506866.1:p.His459Asp
ENST00000683287.1:c.1360C>G	ENSP00000507607.1:p.His454Asp
ENST00000683714.1:c.*87C>G	ENSP00000508207.1:n.*87C>G
ENST00000684396.1:n.1364C>G
ENST00000685320.1:c.739C>G	ENSP00000509319.1:p.His247Asp
ENST00000690257.1:c.1228C>G	ENSP00000510750.1:p.His410Asp
ENST00000355527.8:c.1324C>G MANE Select	ENSP00000347717.4:p.His442Asp
ENST00000355527.7:c.1324C>G	ENSP00000347717.3:p.His442Asp
ENST00000407721.6:c.1324C>G	ENSP00000384739.2:p.His442Asp
ENST00000525137.1:c.825C>G	ENSP00000435956.1:n.825C>G
ENST00000533800.5:c.574C>G	ENSP00000435011.1:p.His192Asp
ENST00000534795.5:c.319+2333C>G
NM_001163817.1:c.1324C>G	NP_001157289.1:p.His442Asp
NM_001360.2:c.1324C>G , LRG_340t1:c.1324C>G	NP_001351.2:p.His442Asp
XM_011544777.1:c.*87C>G	XP_011543079.1:n.*87C>G
XM_011544777.2:c.*87C>G	XP_011543079.1:n.*87C>G
NM_001163817.2:c.1324C>G	NP_001157289.1:p.His442Asp
NM_001360.3:c.1324C>G MANE Select	NP_001351.2:p.His442Asp