Canonical Allele Identifier: CA381702551

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146871C>A (hg19) ; chr11:g.71435825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435825C>A , CM000673.2:g.71435825C>A	GRCh38
NC_000011.9:g.71146871C>A , CM000673.1:g.71146871C>A	GRCh37
NC_000011.8:g.70824519C>A	NCBI36
NG_012655.2:g.17607G>T , LRG_340:g.17607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.978G>T	ENSP00000435707.3:p.Val326=
ENST00000526780.6:c.978G>T	ENSP00000435668.2:p.Val326=
ENST00000527316.6:c.804G>T	ENSP00000435047.2:p.Val268=
ENST00000682708.1:c.1029G>T	ENSP00000506866.1:p.Val343=
ENST00000683287.1:c.1014G>T	ENSP00000507607.1:p.Val338=
ENST00000683714.1:c.986G>T	ENSP00000508207.1:p.Cys329Phe
ENST00000684396.1:n.1018G>T
ENST00000685320.1:c.393G>T	ENSP00000509319.1:p.Val131=
ENST00000690257.1:c.882G>T	ENSP00000510750.1:p.Val294=
ENST00000355527.8:c.978G>T MANE Select	ENSP00000347717.4:p.Val326=
ENST00000355527.7:c.978G>T	ENSP00000347717.3:p.Val326=
ENST00000407721.6:c.978G>T	ENSP00000384739.2:p.Val326=
ENST00000525137.1:c.479G>T	ENSP00000435956.1:p.Cys160Phe
ENST00000533800.5:c.228G>T	ENSP00000435011.1:p.Val76=
ENST00000534795.5:c.319+1987G>T
NM_001163817.1:c.978G>T	NP_001157289.1:p.Val326=
NM_001360.2:c.978G>T , LRG_340t1:c.978G>T	NP_001351.2:p.Val326=
XM_011544777.1:c.1112G>T	XP_011543079.1:p.Cys371Phe
XM_011544777.2:c.1112G>T	XP_011543079.1:p.Cys371Phe
NM_001163817.2:c.978G>T	NP_001157289.1:p.Val326=
NM_001360.3:c.978G>T MANE Select	NP_001351.2:p.Val326=