Canonical Allele Identifier: CA381701700

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146680T>G (hg19) ; chr11:g.71435634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435634T>G , CM000673.2:g.71435634T>G	GRCh38
NC_000011.9:g.71146680T>G , CM000673.1:g.71146680T>G	GRCh37
NC_000011.8:g.70824328T>G	NCBI36
NG_012655.2:g.17798A>C , LRG_340:g.17798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1169A>C	ENSP00000435707.3:p.His390Pro
ENST00000526780.6:c.1169A>C	ENSP00000435668.2:p.His390Pro
ENST00000527316.6:c.995A>C	ENSP00000435047.2:p.His332Pro
ENST00000682708.1:c.1220A>C	ENSP00000506866.1:p.His407Pro
ENST00000683287.1:c.1205A>C	ENSP00000507607.1:p.His402Pro
ENST00000683714.1:c.1177A>C	ENSP00000508207.1:p.Thr393Pro
ENST00000684396.1:n.1209A>C
ENST00000685320.1:c.584A>C	ENSP00000509319.1:p.His195Pro
ENST00000690257.1:c.1073A>C	ENSP00000510750.1:p.His358Pro
ENST00000355527.8:c.1169A>C MANE Select	ENSP00000347717.4:p.His390Pro
ENST00000355527.7:c.1169A>C	ENSP00000347717.3:p.His390Pro
ENST00000407721.6:c.1169A>C	ENSP00000384739.2:p.His390Pro
ENST00000525137.1:c.670A>C	ENSP00000435956.1:p.Thr224Pro
ENST00000533800.5:c.419A>C	ENSP00000435011.1:p.His140Pro
ENST00000534795.5:c.319+2178A>C
NM_001163817.1:c.1169A>C	NP_001157289.1:p.His390Pro
NM_001360.2:c.1169A>C , LRG_340t1:c.1169A>C	NP_001351.2:p.His390Pro
XM_011544777.1:c.1303A>C	XP_011543079.1:p.Thr435Pro
XM_011544777.2:c.1303A>C	XP_011543079.1:p.Thr435Pro
NM_001163817.2:c.1169A>C	NP_001157289.1:p.His390Pro
NM_001360.3:c.1169A>C MANE Select	NP_001351.2:p.His390Pro