Canonical Allele Identifier: CA6162414

Gene: DHCR7

Linked Data

• dbSNP Id: rs765481717
• ExAC: 11:71148961 T / C
• gnomAD v2: 11-71148961-T-C
• MyVariant Identifiers: chr11:g.71148961T>C (hg19) ; chr11:g.71437915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437915T>C , CM000673.2:g.71437915T>C	GRCh38
NC_000011.9:g.71148961T>C , CM000673.1:g.71148961T>C	GRCh37
NC_000011.8:g.70826609T>C	NCBI36
NG_012655.2:g.15517A>G , LRG_340:g.15517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.860A>G	ENSP00000435707.3:p.Asn287Ser
ENST00000526780.6:c.860A>G	ENSP00000435668.2:p.Asn287Ser
ENST00000527316.6:c.686A>G	ENSP00000435047.2:p.Asn229Ser
ENST00000682708.1:c.911A>G	ENSP00000506866.1:p.Asn304Ser
ENST00000682880.1:c.860A>G	ENSP00000507520.1:p.Asn287Ser
ENST00000683287.1:c.896A>G	ENSP00000507607.1:p.Asn299Ser
ENST00000683714.1:c.860A>G	ENSP00000508207.1:p.Asn287Ser
ENST00000684396.1:n.900A>G
ENST00000685320.1:c.275A>G	ENSP00000509319.1:p.Asn92Ser
ENST00000690257.1:c.764A>G	ENSP00000510750.1:p.Asn255Ser
ENST00000355527.8:c.860A>G MANE Select	ENSP00000347717.4:p.Asn287Ser
ENST00000355527.7:c.860A>G	ENSP00000347717.3:p.Asn287Ser
ENST00000407721.6:c.860A>G	ENSP00000384739.2:p.Asn287Ser
ENST00000525137.1:c.227A>G	ENSP00000435956.1:p.Asn76Ser
ENST00000527316.5:c.764A>G	ENSP00000435047.1:p.Asn255Ser
ENST00000533800.5:c.110A>G	ENSP00000435011.1:p.Asn37Ser
ENST00000534795.5:c.216A>G
NM_001163817.1:c.860A>G	NP_001157289.1:p.Asn287Ser
NM_001360.2:c.860A>G , LRG_340t1:c.860A>G	NP_001351.2:p.Asn287Ser
XM_011544777.1:c.860A>G	XP_011543079.1:p.Asn287Ser
XM_011544777.2:c.860A>G	XP_011543079.1:p.Asn287Ser
NM_001163817.2:c.860A>G	NP_001157289.1:p.Asn287Ser
NM_001360.3:c.860A>G MANE Select	NP_001351.2:p.Asn287Ser