Canonical Allele Identifier: CA381696299

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71444061-T-C
• MyVariant Identifiers: chr11:g.71155107T>C (hg19) ; chr11:g.71444061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444061T>C , CM000673.2:g.71444061T>C	GRCh38
NC_000011.9:g.71155107T>C , CM000673.1:g.71155107T>C	GRCh37
NC_000011.8:g.70832755T>C	NCBI36
NG_012655.2:g.9371A>G , LRG_340:g.9371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.253A>G	ENSP00000435707.3:p.Ile85Val
ENST00000526780.6:c.253A>G	ENSP00000435668.2:p.Ile85Val
ENST00000527316.6:c.79A>G	ENSP00000435047.2:p.Ile27Val
ENST00000529990.6:c.79A>G	ENSP00000435058.2:p.Ile27Val
ENST00000682708.1:c.253A>G	ENSP00000506866.1:p.Ile85Val
ENST00000682880.1:c.253A>G	ENSP00000507520.1:p.Ile85Val
ENST00000683287.1:c.253A>G	ENSP00000507607.1:p.Ile85Val
ENST00000683714.1:c.253A>G	ENSP00000508207.1:p.Ile85Val
ENST00000683874.1:n.530A>G
ENST00000685320.1:c.-333A>G	ENSP00000509319.1:n.-333A>G
ENST00000690257.1:c.157A>G	ENSP00000510750.1:p.Ile53Val
ENST00000355527.8:c.253A>G MANE Select	ENSP00000347717.4:p.Ile85Val
ENST00000355527.7:c.253A>G	ENSP00000347717.3:p.Ile85Val
ENST00000407721.6:c.253A>G	ENSP00000384739.2:p.Ile85Val
ENST00000525346.5:c.253A>G	ENSP00000435707.2:p.Ile85Val
ENST00000526780.5:c.253A>G	ENSP00000435668.1:p.Ile85Val
ENST00000527316.5:c.157A>G	ENSP00000435047.1:p.Ile53Val
ENST00000527452.1:c.253A>G	ENSP00000436007.1:p.Ile85Val
ENST00000529990.5:c.193A>G	ENSP00000435058.1:p.Ile65Val
ENST00000531364.5:c.253A>G	ENSP00000432589.1:p.Ile85Val
NM_001163817.1:c.253A>G	NP_001157289.1:p.Ile85Val
NM_001360.2:c.253A>G , LRG_340t1:c.253A>G	NP_001351.2:p.Ile85Val
XM_011544777.1:c.253A>G	XP_011543079.1:p.Ile85Val
XM_011544777.2:c.253A>G	XP_011543079.1:p.Ile85Val
NM_001163817.2:c.253A>G	NP_001157289.1:p.Ile85Val
NM_001360.3:c.253A>G MANE Select	NP_001351.2:p.Ile85Val