Canonical Allele Identifier: CA381701584

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435615-C-A
• MyVariant Identifiers: chr11:g.71146661C>A (hg19) ; chr11:g.71435615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435615C>A , CM000673.2:g.71435615C>A	GRCh38
NC_000011.9:g.71146661C>A , CM000673.1:g.71146661C>A	GRCh37
NC_000011.8:g.70824309C>A	NCBI36
NG_012655.2:g.17817G>T , LRG_340:g.17817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1188G>T	ENSP00000435707.3:p.Val396=
ENST00000526780.6:c.1188G>T	ENSP00000435668.2:p.Val396=
ENST00000527316.6:c.1014G>T	ENSP00000435047.2:p.Val338=
ENST00000682708.1:c.1239G>T	ENSP00000506866.1:p.Val413=
ENST00000683287.1:c.1224G>T	ENSP00000507607.1:p.Val408=
ENST00000683714.1:c.1196G>T	ENSP00000508207.1:p.Cys399Phe
ENST00000684396.1:n.1228G>T
ENST00000685320.1:c.603G>T	ENSP00000509319.1:p.Val201=
ENST00000690257.1:c.1092G>T	ENSP00000510750.1:p.Val364=
ENST00000355527.8:c.1188G>T MANE Select	ENSP00000347717.4:p.Val396=
ENST00000355527.7:c.1188G>T	ENSP00000347717.3:p.Val396=
ENST00000407721.6:c.1188G>T	ENSP00000384739.2:p.Val396=
ENST00000525137.1:c.689G>T	ENSP00000435956.1:p.Cys230Phe
ENST00000533800.5:c.438G>T	ENSP00000435011.1:p.Val146=
ENST00000534795.5:c.319+2197G>T
NM_001163817.1:c.1188G>T	NP_001157289.1:p.Val396=
NM_001360.2:c.1188G>T , LRG_340t1:c.1188G>T	NP_001351.2:p.Val396=
XM_011544777.1:c.1322G>T	XP_011543079.1:p.Cys441Phe
XM_011544777.2:c.1322G>T	XP_011543079.1:p.Cys441Phe
NM_001163817.2:c.1188G>T	NP_001157289.1:p.Val396=
NM_001360.3:c.1188G>T MANE Select	NP_001351.2:p.Val396=