Canonical Allele Identifier: CA475566029

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146529C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435483C>G , CM000673.2:g.71435483C>G	GRCh38
NC_000011.9:g.71146529C>G , CM000673.1:g.71146529C>G	GRCh37
NC_000011.8:g.70824177C>G	NCBI36
NG_012655.2:g.17949G>C , LRG_340:g.17949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1320G>C	ENSP00000435707.3:p.Leu440=
ENST00000526780.6:c.1320G>C	ENSP00000435668.2:p.Leu440=
ENST00000527316.6:c.1146G>C	ENSP00000435047.2:p.Leu382=
ENST00000682708.1:c.1371G>C	ENSP00000506866.1:p.Leu457=
ENST00000683287.1:c.1356G>C	ENSP00000507607.1:p.Leu452=
ENST00000683714.1:c.*83G>C	ENSP00000508207.1:n.*83G>C
ENST00000684396.1:n.1360G>C
ENST00000685320.1:c.735G>C	ENSP00000509319.1:p.Leu245=
ENST00000690257.1:c.1224G>C	ENSP00000510750.1:p.Leu408=
ENST00000355527.8:c.1320G>C MANE Select	ENSP00000347717.4:p.Leu440=
ENST00000355527.7:c.1320G>C	ENSP00000347717.3:p.Leu440=
ENST00000407721.6:c.1320G>C	ENSP00000384739.2:p.Leu440=
ENST00000525137.1:c.821G>C	ENSP00000435956.1:n.821G>C
ENST00000533800.5:c.570G>C	ENSP00000435011.1:p.Leu190=
ENST00000534795.5:c.319+2329G>C
NM_001163817.1:c.1320G>C	NP_001157289.1:p.Leu440=
NM_001360.2:c.1320G>C , LRG_340t1:c.1320G>C	NP_001351.2:p.Leu440=
XM_011544777.1:c.*83G>C	XP_011543079.1:n.*83G>C
XM_011544777.2:c.*83G>C	XP_011543079.1:n.*83G>C
NM_001163817.2:c.1320G>C	NP_001157289.1:p.Leu440=
NM_001360.3:c.1320G>C MANE Select	NP_001351.2:p.Leu440=