Canonical Allele Identifier: CA381703028

Gene: DHCR7

Linked Data

• dbSNP Id: rs1224039430
• gnomAD v2: 11-71148925-T-C
• gnomAD v4: 11-71437879-T-C
• MyVariant Identifiers: chr11:g.71148925T>C (hg19) ; chr11:g.71437879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437879T>C , CM000673.2:g.71437879T>C	GRCh38
NC_000011.9:g.71148925T>C , CM000673.1:g.71148925T>C	GRCh37
NC_000011.8:g.70826573T>C	NCBI36
NG_012655.2:g.15553A>G , LRG_340:g.15553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.896A>G	ENSP00000435707.3:p.His299Arg
ENST00000526780.6:c.896A>G	ENSP00000435668.2:p.His299Arg
ENST00000527316.6:c.722A>G	ENSP00000435047.2:p.His241Arg
ENST00000682708.1:c.947A>G	ENSP00000506866.1:p.His316Arg
ENST00000682880.1:c.896A>G	ENSP00000507520.1:p.His299Arg
ENST00000683287.1:c.932A>G	ENSP00000507607.1:p.His311Arg
ENST00000683714.1:c.896A>G	ENSP00000508207.1:p.His299Arg
ENST00000684396.1:n.936A>G
ENST00000685320.1:c.311A>G	ENSP00000509319.1:p.His104Arg
ENST00000690257.1:c.800A>G	ENSP00000510750.1:p.His267Arg
ENST00000355527.8:c.896A>G MANE Select	ENSP00000347717.4:p.His299Arg
ENST00000355527.7:c.896A>G	ENSP00000347717.3:p.His299Arg
ENST00000407721.6:c.896A>G	ENSP00000384739.2:p.His299Arg
ENST00000525137.1:c.263A>G	ENSP00000435956.1:p.His88Arg
ENST00000533800.5:c.146A>G	ENSP00000435011.1:p.His49Arg
ENST00000534795.5:c.252A>G
NM_001163817.1:c.896A>G	NP_001157289.1:p.His299Arg
NM_001360.2:c.896A>G , LRG_340t1:c.896A>G	NP_001351.2:p.His299Arg
XM_011544777.1:c.896A>G	XP_011543079.1:p.His299Arg
XM_011544777.2:c.896A>G	XP_011543079.1:p.His299Arg
NM_001163817.2:c.896A>G	NP_001157289.1:p.His299Arg
NM_001360.3:c.896A>G MANE Select	NP_001351.2:p.His299Arg