Canonical Allele Identifier: CA381702567

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949273832
• gnomAD v3: 11-71435831-G-A
• gnomAD v4: 11-71435831-G-A
• MyVariant Identifiers: chr11:g.71146877G>A (hg19) ; chr11:g.71435831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435831G>A , CM000673.2:g.71435831G>A	GRCh38
NC_000011.9:g.71146877G>A , CM000673.1:g.71146877G>A	GRCh37
NC_000011.8:g.70824525G>A	NCBI36
NG_012655.2:g.17601C>T , LRG_340:g.17601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.972C>T	ENSP00000435707.3:p.Tyr324=
ENST00000526780.6:c.972C>T	ENSP00000435668.2:p.Tyr324=
ENST00000527316.6:c.798C>T	ENSP00000435047.2:p.Tyr266=
ENST00000682708.1:c.1023C>T	ENSP00000506866.1:p.Tyr341=
ENST00000683287.1:c.1008C>T	ENSP00000507607.1:p.Tyr336=
ENST00000683714.1:c.980C>T	ENSP00000508207.1:p.Thr327Ile
ENST00000684396.1:n.1012C>T
ENST00000685320.1:c.387C>T	ENSP00000509319.1:p.Tyr129=
ENST00000690257.1:c.876C>T	ENSP00000510750.1:p.Tyr292=
ENST00000355527.8:c.972C>T MANE Select	ENSP00000347717.4:p.Tyr324=
ENST00000355527.7:c.972C>T	ENSP00000347717.3:p.Tyr324=
ENST00000407721.6:c.972C>T	ENSP00000384739.2:p.Tyr324=
ENST00000525137.1:c.473C>T	ENSP00000435956.1:p.Thr158Ile
ENST00000533800.5:c.222C>T	ENSP00000435011.1:p.Tyr74=
ENST00000534795.5:c.319+1981C>T
NM_001163817.1:c.972C>T	NP_001157289.1:p.Tyr324=
NM_001360.2:c.972C>T , LRG_340t1:c.972C>T	NP_001351.2:p.Tyr324=
XM_011544777.1:c.1106C>T	XP_011543079.1:p.Thr369Ile
XM_011544777.2:c.1106C>T	XP_011543079.1:p.Thr369Ile
NM_001163817.2:c.972C>T	NP_001157289.1:p.Tyr324=
NM_001360.3:c.972C>T MANE Select	NP_001351.2:p.Tyr324=