Canonical Allele Identifier: CA381702007

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1578298
• ClinVar RCV Id: RCV002090527
• dbSNP Id: rs2135939865
• MyVariant Identifiers: chr11:g.71146739G>A (hg19) ; chr11:g.71435693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435693G>A , CM000673.2:g.71435693G>A	GRCh38
NC_000011.9:g.71146739G>A , CM000673.1:g.71146739G>A	GRCh37
NC_000011.8:g.70824387G>A	NCBI36
NG_012655.2:g.17739C>T , LRG_340:g.17739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1110C>T	ENSP00000435707.3:p.Ile370=
ENST00000526780.6:c.1110C>T	ENSP00000435668.2:p.Ile370=
ENST00000527316.6:c.936C>T	ENSP00000435047.2:p.Ile312=
ENST00000682708.1:c.1161C>T	ENSP00000506866.1:p.Ile387=
ENST00000683287.1:c.1146C>T	ENSP00000507607.1:p.Ile382=
ENST00000683714.1:c.1118C>T	ENSP00000508207.1:p.Ser373Phe
ENST00000684396.1:n.1150C>T
ENST00000685320.1:c.525C>T	ENSP00000509319.1:p.Ile175=
ENST00000690257.1:c.1014C>T	ENSP00000510750.1:p.Ile338=
ENST00000355527.8:c.1110C>T MANE Select	ENSP00000347717.4:p.Ile370=
ENST00000355527.7:c.1110C>T	ENSP00000347717.3:p.Ile370=
ENST00000407721.6:c.1110C>T	ENSP00000384739.2:p.Ile370=
ENST00000525137.1:c.611C>T	ENSP00000435956.1:p.Ser204Phe
ENST00000533800.5:c.360C>T	ENSP00000435011.1:p.Ile120=
ENST00000534795.5:c.319+2119C>T
NM_001163817.1:c.1110C>T	NP_001157289.1:p.Ile370=
NM_001360.2:c.1110C>T , LRG_340t1:c.1110C>T	NP_001351.2:p.Ile370=
XM_011544777.1:c.1244C>T	XP_011543079.1:p.Ser415Phe
XM_011544777.2:c.1244C>T	XP_011543079.1:p.Ser415Phe
NM_001163817.2:c.1110C>T	NP_001157289.1:p.Ile370=
NM_001360.3:c.1110C>T MANE Select	NP_001351.2:p.Ile370=