Canonical Allele Identifier: CA381702101

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146764C>G (hg19) ; chr11:g.71435718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435718C>G , CM000673.2:g.71435718C>G	GRCh38
NC_000011.9:g.71146764C>G , CM000673.1:g.71146764C>G	GRCh37
NC_000011.8:g.70824412C>G	NCBI36
NG_012655.2:g.17714G>C , LRG_340:g.17714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1085G>C	ENSP00000435707.3:p.Arg362Pro
ENST00000526780.6:c.1085G>C	ENSP00000435668.2:p.Arg362Pro
ENST00000527316.6:c.911G>C	ENSP00000435047.2:p.Arg304Pro
ENST00000682708.1:c.1136G>C	ENSP00000506866.1:p.Arg379Pro
ENST00000683287.1:c.1121G>C	ENSP00000507607.1:p.Arg374Pro
ENST00000683714.1:c.1093G>C	ENSP00000508207.1:p.Ala365Pro
ENST00000684396.1:n.1125G>C
ENST00000685320.1:c.500G>C	ENSP00000509319.1:p.Arg167Pro
ENST00000690257.1:c.989G>C	ENSP00000510750.1:p.Arg330Pro
ENST00000355527.8:c.1085G>C MANE Select	ENSP00000347717.4:p.Arg362Pro
ENST00000355527.7:c.1085G>C	ENSP00000347717.3:p.Arg362Pro
ENST00000407721.6:c.1085G>C	ENSP00000384739.2:p.Arg362Pro
ENST00000525137.1:c.586G>C	ENSP00000435956.1:p.Ala196Pro
ENST00000533800.5:c.335G>C	ENSP00000435011.1:p.Arg112Pro
ENST00000534795.5:c.319+2094G>C
NM_001163817.1:c.1085G>C	NP_001157289.1:p.Arg362Pro
NM_001360.2:c.1085G>C , LRG_340t1:c.1085G>C	NP_001351.2:p.Arg362Pro
XM_011544777.1:c.1219G>C	XP_011543079.1:p.Ala407Pro
XM_011544777.2:c.1219G>C	XP_011543079.1:p.Ala407Pro
NM_001163817.2:c.1085G>C	NP_001157289.1:p.Arg362Pro
NM_001360.3:c.1085G>C MANE Select	NP_001351.2:p.Arg362Pro