Canonical Allele Identifier: CA381702339

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435769-A-G
• MyVariant Identifiers: chr11:g.71146815A>G (hg19) ; chr11:g.71435769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435769A>G , CM000673.2:g.71435769A>G	GRCh38
NC_000011.9:g.71146815A>G , CM000673.1:g.71146815A>G	GRCh37
NC_000011.8:g.70824463A>G	NCBI36
NG_012655.2:g.17663T>C , LRG_340:g.17663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1034T>C	ENSP00000435707.3:p.Leu345Pro
ENST00000526780.6:c.1034T>C	ENSP00000435668.2:p.Leu345Pro
ENST00000527316.6:c.860T>C	ENSP00000435047.2:p.Leu287Pro
ENST00000682708.1:c.1085T>C	ENSP00000506866.1:p.Leu362Pro
ENST00000683287.1:c.1070T>C	ENSP00000507607.1:p.Leu357Pro
ENST00000683714.1:c.1042T>C	ENSP00000508207.1:p.Trp348Arg
ENST00000684396.1:n.1074T>C
ENST00000685320.1:c.449T>C	ENSP00000509319.1:p.Leu150Pro
ENST00000690257.1:c.938T>C	ENSP00000510750.1:p.Leu313Pro
ENST00000355527.8:c.1034T>C MANE Select	ENSP00000347717.4:p.Leu345Pro
ENST00000355527.7:c.1034T>C	ENSP00000347717.3:p.Leu345Pro
ENST00000407721.6:c.1034T>C	ENSP00000384739.2:p.Leu345Pro
ENST00000525137.1:c.535T>C	ENSP00000435956.1:p.Trp179Arg
ENST00000533800.5:c.284T>C	ENSP00000435011.1:p.Leu95Pro
ENST00000534795.5:c.319+2043T>C
NM_001163817.1:c.1034T>C	NP_001157289.1:p.Leu345Pro
NM_001360.2:c.1034T>C , LRG_340t1:c.1034T>C	NP_001351.2:p.Leu345Pro
XM_011544777.1:c.1168T>C	XP_011543079.1:p.Trp390Arg
XM_011544777.2:c.1168T>C	XP_011543079.1:p.Trp390Arg
NM_001163817.2:c.1034T>C	NP_001157289.1:p.Leu345Pro
NM_001360.3:c.1034T>C MANE Select	NP_001351.2:p.Leu345Pro