Canonical Allele Identifier: CA224279855

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2733753
• ClinVar RCV Id: RCV003508815
• dbSNP Id: rs149164866
• gnomAD v4: 11-71441382-G-C
• MyVariant Identifiers: chr11:g.71152428G>C (hg19) ; chr11:g.71441382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441382G>C , CM000673.2:g.71441382G>C	GRCh38
NC_000011.9:g.71152428G>C , CM000673.1:g.71152428G>C	GRCh37
NC_000011.8:g.70830076G>C	NCBI36
NG_012655.2:g.12050C>G , LRG_340:g.12050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.471C>G	ENSP00000435707.3:p.Leu157=
ENST00000526780.6:c.471C>G	ENSP00000435668.2:p.Leu157=
ENST00000527316.6:c.297C>G	ENSP00000435047.2:p.Leu99=
ENST00000682708.1:c.471C>G	ENSP00000506866.1:p.Leu157=
ENST00000682880.1:c.471C>G	ENSP00000507520.1:p.Leu157=
ENST00000683287.1:c.507C>G	ENSP00000507607.1:p.Leu169=
ENST00000683714.1:c.471C>G	ENSP00000508207.1:p.Leu157=
ENST00000683874.1:n.748C>G
ENST00000685320.1:c.-115C>G	ENSP00000509319.1:n.-115C>G
ENST00000690257.1:c.375C>G	ENSP00000510750.1:p.Leu125=
ENST00000355527.8:c.471C>G MANE Select	ENSP00000347717.4:p.Leu157=
ENST00000355527.7:c.471C>G	ENSP00000347717.3:p.Leu157=
ENST00000407721.6:c.471C>G	ENSP00000384739.2:p.Leu157=
ENST00000526780.5:c.471C>G	ENSP00000435668.1:p.Leu157=
ENST00000527316.5:c.375C>G	ENSP00000435047.1:p.Leu125=
NM_001163817.1:c.471C>G	NP_001157289.1:p.Leu157=
NM_001360.2:c.471C>G , LRG_340t1:c.471C>G	NP_001351.2:p.Leu157=
XM_011544777.1:c.471C>G	XP_011543079.1:p.Leu157=
XM_011544777.2:c.471C>G	XP_011543079.1:p.Leu157=
NM_001163817.2:c.471C>G	NP_001157289.1:p.Leu157=
NM_001360.3:c.471C>G MANE Select	NP_001351.2:p.Leu157=