Canonical Allele Identifier: CA381701397

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1487172
• ClinVar RCV Id: RCV002006262
• dbSNP Id: rs1219026826
• gnomAD v4: 11-71435580-T-A
• MyVariant Identifiers: chr11:g.71146626T>A (hg19) ; chr11:g.71435580T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435580T>A , CM000673.2:g.71435580T>A	GRCh38
NC_000011.9:g.71146626T>A , CM000673.1:g.71146626T>A	GRCh37
NC_000011.8:g.70824274T>A	NCBI36
NG_012655.2:g.17852A>T , LRG_340:g.17852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1223A>T	ENSP00000435707.3:p.Tyr408Phe
ENST00000526780.6:c.1223A>T	ENSP00000435668.2:p.Tyr408Phe
ENST00000527316.6:c.1049A>T	ENSP00000435047.2:p.Tyr350Phe
ENST00000682708.1:c.1274A>T	ENSP00000506866.1:p.Tyr425Phe
ENST00000683287.1:c.1259A>T	ENSP00000507607.1:p.Tyr420Phe
ENST00000683714.1:c.1231A>T	ENSP00000508207.1:p.Thr411Ser
ENST00000684396.1:n.1263A>T
ENST00000685320.1:c.638A>T	ENSP00000509319.1:p.Tyr213Phe
ENST00000690257.1:c.1127A>T	ENSP00000510750.1:p.Tyr376Phe
ENST00000355527.8:c.1223A>T MANE Select	ENSP00000347717.4:p.Tyr408Phe
ENST00000355527.7:c.1223A>T	ENSP00000347717.3:p.Tyr408Phe
ENST00000407721.6:c.1223A>T	ENSP00000384739.2:p.Tyr408Phe
ENST00000525137.1:c.724A>T	ENSP00000435956.1:p.Thr242Ser
ENST00000533800.5:c.473A>T	ENSP00000435011.1:p.Tyr158Phe
ENST00000534795.5:c.319+2232A>T
NM_001163817.1:c.1223A>T	NP_001157289.1:p.Tyr408Phe
NM_001360.2:c.1223A>T , LRG_340t1:c.1223A>T	NP_001351.2:p.Tyr408Phe
XM_011544777.1:c.1357A>T	XP_011543079.1:p.Thr453Ser
XM_011544777.2:c.1357A>T	XP_011543079.1:p.Thr453Ser
NM_001163817.2:c.1223A>T	NP_001157289.1:p.Tyr408Phe
NM_001360.3:c.1223A>T MANE Select	NP_001351.2:p.Tyr408Phe