Canonical Allele Identifier: CA381696685

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71444180-A-G
• MyVariant Identifiers: chr11:g.71155226A>G (hg19) ; chr11:g.71444180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444180A>G , CM000673.2:g.71444180A>G	GRCh38
NC_000011.9:g.71155226A>G , CM000673.1:g.71155226A>G	GRCh37
NC_000011.8:g.70832874A>G	NCBI36
NG_012655.2:g.9252T>C , LRG_340:g.9252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.134T>C	ENSP00000435707.3:p.Phe45Ser
ENST00000526780.6:c.134T>C	ENSP00000435668.2:p.Phe45Ser
ENST00000527316.6:c.-41T>C	ENSP00000435047.2:n.-41T>C
ENST00000529990.6:c.-41T>C	ENSP00000435058.2:n.-41T>C
ENST00000682708.1:c.134T>C	ENSP00000506866.1:p.Phe45Ser
ENST00000682880.1:c.134T>C	ENSP00000507520.1:p.Phe45Ser
ENST00000683287.1:c.134T>C	ENSP00000507607.1:p.Phe45Ser
ENST00000683714.1:c.134T>C	ENSP00000508207.1:p.Phe45Ser
ENST00000683874.1:n.411T>C
ENST00000685320.1:c.-333-119T>C	ENSP00000509319.1:n.-333-119T>C
ENST00000690257.1:c.99-61T>C	ENSP00000510750.1:n.99-61T>C
ENST00000355527.8:c.134T>C MANE Select	ENSP00000347717.4:p.Phe45Ser
ENST00000355527.7:c.134T>C	ENSP00000347717.3:p.Phe45Ser
ENST00000407721.6:c.134T>C	ENSP00000384739.2:p.Phe45Ser
ENST00000525346.5:c.134T>C	ENSP00000435707.2:p.Phe45Ser
ENST00000526780.5:c.134T>C	ENSP00000435668.1:p.Phe45Ser
ENST00000527316.5:c.99-61T>C	ENSP00000435047.1:n.99-61T>C
ENST00000527452.1:c.134T>C	ENSP00000436007.1:p.Phe45Ser
ENST00000529990.5:c.74T>C	ENSP00000435058.1:p.Phe25Ser
ENST00000531364.5:c.134T>C	ENSP00000432589.1:p.Phe45Ser
NM_001163817.1:c.134T>C	NP_001157289.1:p.Phe45Ser
NM_001360.2:c.134T>C , LRG_340t1:c.134T>C	NP_001351.2:p.Phe45Ser
XM_011544777.1:c.134T>C	XP_011543079.1:p.Phe45Ser
XM_011544777.2:c.134T>C	XP_011543079.1:p.Phe45Ser
NM_001163817.2:c.134T>C	NP_001157289.1:p.Phe45Ser
NM_001360.3:c.134T>C MANE Select	NP_001351.2:p.Phe45Ser