Canonical Allele Identifier: CA381701554

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435608-A-G
• MyVariant Identifiers: chr11:g.71146654A>G (hg19) ; chr11:g.71435608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435608A>G , CM000673.2:g.71435608A>G	GRCh38
NC_000011.9:g.71146654A>G , CM000673.1:g.71146654A>G	GRCh37
NC_000011.8:g.70824302A>G	NCBI36
NG_012655.2:g.17824T>C , LRG_340:g.17824T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1195T>C	ENSP00000435707.3:p.Phe399Leu
ENST00000526780.6:c.1195T>C	ENSP00000435668.2:p.Phe399Leu
ENST00000527316.6:c.1021T>C	ENSP00000435047.2:p.Phe341Leu
ENST00000682708.1:c.1246T>C	ENSP00000506866.1:p.Phe416Leu
ENST00000683287.1:c.1231T>C	ENSP00000507607.1:p.Phe411Leu
ENST00000683714.1:c.1203T>C	ENSP00000508207.1:p.Ala401=
ENST00000684396.1:n.1235T>C
ENST00000685320.1:c.610T>C	ENSP00000509319.1:p.Phe204Leu
ENST00000690257.1:c.1099T>C	ENSP00000510750.1:p.Phe367Leu
ENST00000355527.8:c.1195T>C MANE Select	ENSP00000347717.4:p.Phe399Leu
ENST00000355527.7:c.1195T>C	ENSP00000347717.3:p.Phe399Leu
ENST00000407721.6:c.1195T>C	ENSP00000384739.2:p.Phe399Leu
ENST00000525137.1:c.696T>C	ENSP00000435956.1:p.Ala232=
ENST00000533800.5:c.445T>C	ENSP00000435011.1:p.Phe149Leu
ENST00000534795.5:c.319+2204T>C
NM_001163817.1:c.1195T>C	NP_001157289.1:p.Phe399Leu
NM_001360.2:c.1195T>C , LRG_340t1:c.1195T>C	NP_001351.2:p.Phe399Leu
XM_011544777.1:c.1329T>C	XP_011543079.1:p.Ala443=
XM_011544777.2:c.1329T>C	XP_011543079.1:p.Ala443=
NM_001163817.2:c.1195T>C	NP_001157289.1:p.Phe399Leu
NM_001360.3:c.1195T>C MANE Select	NP_001351.2:p.Phe399Leu