Canonical Allele Identifier: CA381703059

Gene: DHCR7

Linked Data

• dbSNP Id: rs1179380860
• gnomAD v2: 11-71148940-G-A
• gnomAD v4: 11-71437894-G-A
• MyVariant Identifiers: chr11:g.71148940G>A (hg19) ; chr11:g.71437894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437894G>A , CM000673.2:g.71437894G>A	GRCh38
NC_000011.9:g.71148940G>A , CM000673.1:g.71148940G>A	GRCh37
NC_000011.8:g.70826588G>A	NCBI36
NG_012655.2:g.15538C>T , LRG_340:g.15538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.881C>T	ENSP00000435707.3:p.Thr294Ile
ENST00000526780.6:c.881C>T	ENSP00000435668.2:p.Thr294Ile
ENST00000527316.6:c.707C>T	ENSP00000435047.2:p.Thr236Ile
ENST00000682708.1:c.932C>T	ENSP00000506866.1:p.Thr311Ile
ENST00000682880.1:c.881C>T	ENSP00000507520.1:p.Thr294Ile
ENST00000683287.1:c.917C>T	ENSP00000507607.1:p.Thr306Ile
ENST00000683714.1:c.881C>T	ENSP00000508207.1:p.Thr294Ile
ENST00000684396.1:n.921C>T
ENST00000685320.1:c.296C>T	ENSP00000509319.1:p.Thr99Ile
ENST00000690257.1:c.785C>T	ENSP00000510750.1:p.Thr262Ile
ENST00000355527.8:c.881C>T MANE Select	ENSP00000347717.4:p.Thr294Ile
ENST00000355527.7:c.881C>T	ENSP00000347717.3:p.Thr294Ile
ENST00000407721.6:c.881C>T	ENSP00000384739.2:p.Thr294Ile
ENST00000525137.1:c.248C>T	ENSP00000435956.1:p.Thr83Ile
ENST00000533800.5:c.131C>T	ENSP00000435011.1:p.Thr44Ile
ENST00000534795.5:c.237C>T
NM_001163817.1:c.881C>T	NP_001157289.1:p.Thr294Ile
NM_001360.2:c.881C>T , LRG_340t1:c.881C>T	NP_001351.2:p.Thr294Ile
XM_011544777.1:c.881C>T	XP_011543079.1:p.Thr294Ile
XM_011544777.2:c.881C>T	XP_011543079.1:p.Thr294Ile
NM_001163817.2:c.881C>T	NP_001157289.1:p.Thr294Ile
NM_001360.3:c.881C>T MANE Select	NP_001351.2:p.Thr294Ile