Canonical Allele Identifier: CA179966

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 166986
• ClinVar RCV Id: RCV000153141 ; RCV000328864 ; RCV000589158 ; RCV002312675
• dbSNP Id: rs75225632
• ExAC: 11:71146841 G / A
• gnomAD v2: 11-71146841-G-A
• gnomAD v3: 11-71435795-G-A
• gnomAD v4: 11-71435795-G-A
• MyVariant Identifiers: chr11:g.71146841G>A (hg19) ; chr11:g.71435795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435795G>A , CM000673.2:g.71435795G>A	GRCh38
NC_000011.9:g.71146841G>A , CM000673.1:g.71146841G>A	GRCh37
NC_000011.8:g.70824489G>A	NCBI36
NG_012655.2:g.17637C>T , LRG_340:g.17637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1008C>T	ENSP00000435707.3:p.His336=
ENST00000526780.6:c.1008C>T	ENSP00000435668.2:p.His336=
ENST00000527316.6:c.834C>T	ENSP00000435047.2:p.His278=
ENST00000682708.1:c.1059C>T	ENSP00000506866.1:p.His353=
ENST00000683287.1:c.1044C>T	ENSP00000507607.1:p.His348=
ENST00000683714.1:c.1016C>T	ENSP00000508207.1:p.Thr339Met
ENST00000684396.1:n.1048C>T
ENST00000685320.1:c.423C>T	ENSP00000509319.1:p.His141=
ENST00000690257.1:c.912C>T	ENSP00000510750.1:p.His304=
ENST00000355527.8:c.1008C>T MANE Select	ENSP00000347717.4:p.His336=
ENST00000355527.7:c.1008C>T	ENSP00000347717.3:p.His336=
ENST00000407721.6:c.1008C>T	ENSP00000384739.2:p.His336=
ENST00000525137.1:c.509C>T	ENSP00000435956.1:p.Thr170Met
ENST00000533800.5:c.258C>T	ENSP00000435011.1:p.His86=
ENST00000534795.5:c.319+2017C>T
NM_001163817.1:c.1008C>T	NP_001157289.1:p.His336=
NM_001360.2:c.1008C>T , LRG_340t1:c.1008C>T	NP_001351.2:p.His336=
XM_011544777.1:c.1142C>T	XP_011543079.1:p.Thr381Met
XM_011544777.2:c.1142C>T	XP_011543079.1:p.Thr381Met
NM_001163817.2:c.1008C>T	NP_001157289.1:p.His336=
NM_001360.3:c.1008C>T MANE Select	NP_001351.2:p.His336=