Canonical Allele Identifier: CA381701850

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 3233440
• ClinVar RCV Id: RCV004527561
• MyVariant Identifiers: chr11:g.71146708A>G (hg19) ; chr11:g.71435662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435662A>G , CM000673.2:g.71435662A>G	GRCh38
NC_000011.9:g.71146708A>G , CM000673.1:g.71146708A>G	GRCh37
NC_000011.8:g.70824356A>G	NCBI36
NG_012655.2:g.17770T>C , LRG_340:g.17770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1141T>C	ENSP00000435707.3:p.Ser381Pro
ENST00000526780.6:c.1141T>C	ENSP00000435668.2:p.Ser381Pro
ENST00000527316.6:c.967T>C	ENSP00000435047.2:p.Ser323Pro
ENST00000682708.1:c.1192T>C	ENSP00000506866.1:p.Ser398Pro
ENST00000683287.1:c.1177T>C	ENSP00000507607.1:p.Ser393Pro
ENST00000683714.1:c.1149T>C	ENSP00000508207.1:p.Ala383=
ENST00000684396.1:n.1181T>C
ENST00000685320.1:c.556T>C	ENSP00000509319.1:p.Ser186Pro
ENST00000690257.1:c.1045T>C	ENSP00000510750.1:p.Ser349Pro
ENST00000355527.8:c.1141T>C MANE Select	ENSP00000347717.4:p.Ser381Pro
ENST00000355527.7:c.1141T>C	ENSP00000347717.3:p.Ser381Pro
ENST00000407721.6:c.1141T>C	ENSP00000384739.2:p.Ser381Pro
ENST00000525137.1:c.642T>C	ENSP00000435956.1:p.Ala214=
ENST00000533800.5:c.391T>C	ENSP00000435011.1:p.Ser131Pro
ENST00000534795.5:c.319+2150T>C
NM_001163817.1:c.1141T>C	NP_001157289.1:p.Ser381Pro
NM_001360.2:c.1141T>C , LRG_340t1:c.1141T>C	NP_001351.2:p.Ser381Pro
XM_011544777.1:c.1275T>C	XP_011543079.1:p.Ala425=
XM_011544777.2:c.1275T>C	XP_011543079.1:p.Ala425=
NM_001163817.2:c.1141T>C	NP_001157289.1:p.Ser381Pro
NM_001360.3:c.1141T>C MANE Select	NP_001351.2:p.Ser381Pro