Canonical Allele Identifier: CA381702162

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435733-T-C
• MyVariant Identifiers: chr11:g.71146779T>C (hg19) ; chr11:g.71435733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435733T>C , CM000673.2:g.71435733T>C	GRCh38
NC_000011.9:g.71146779T>C , CM000673.1:g.71146779T>C	GRCh37
NC_000011.8:g.70824427T>C	NCBI36
NG_012655.2:g.17699A>G , LRG_340:g.17699A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1070A>G	ENSP00000435707.3:p.Gln357Arg
ENST00000526780.6:c.1070A>G	ENSP00000435668.2:p.Gln357Arg
ENST00000527316.6:c.896A>G	ENSP00000435047.2:p.Gln299Arg
ENST00000682708.1:c.1121A>G	ENSP00000506866.1:p.Gln374Arg
ENST00000683287.1:c.1106A>G	ENSP00000507607.1:p.Gln369Arg
ENST00000683714.1:c.1078A>G	ENSP00000508207.1:p.Arg360Gly
ENST00000684396.1:n.1110A>G
ENST00000685320.1:c.485A>G	ENSP00000509319.1:p.Gln162Arg
ENST00000690257.1:c.974A>G	ENSP00000510750.1:p.Gln325Arg
ENST00000355527.8:c.1070A>G MANE Select	ENSP00000347717.4:p.Gln357Arg
ENST00000355527.7:c.1070A>G	ENSP00000347717.3:p.Gln357Arg
ENST00000407721.6:c.1070A>G	ENSP00000384739.2:p.Gln357Arg
ENST00000525137.1:c.571A>G	ENSP00000435956.1:p.Arg191Gly
ENST00000533800.5:c.320A>G	ENSP00000435011.1:p.Gln107Arg
ENST00000534795.5:c.319+2079A>G
NM_001163817.1:c.1070A>G	NP_001157289.1:p.Gln357Arg
NM_001360.2:c.1070A>G , LRG_340t1:c.1070A>G	NP_001351.2:p.Gln357Arg
XM_011544777.1:c.1204A>G	XP_011543079.1:p.Arg402Gly
XM_011544777.2:c.1204A>G	XP_011543079.1:p.Arg402Gly
NM_001163817.2:c.1070A>G	NP_001157289.1:p.Gln357Arg
NM_001360.3:c.1070A>G MANE Select	NP_001351.2:p.Gln357Arg