Canonical Allele Identifier: CA381702148

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146775C>A (hg19) ; chr11:g.71435729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435729C>A , CM000673.2:g.71435729C>A	GRCh38
NC_000011.9:g.71146775C>A , CM000673.1:g.71146775C>A	GRCh37
NC_000011.8:g.70824423C>A	NCBI36
NG_012655.2:g.17703G>T , LRG_340:g.17703G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1074G>T	ENSP00000435707.3:p.Lys358Asn
ENST00000526780.6:c.1074G>T	ENSP00000435668.2:p.Lys358Asn
ENST00000527316.6:c.900G>T	ENSP00000435047.2:p.Lys300Asn
ENST00000682708.1:c.1125G>T	ENSP00000506866.1:p.Lys375Asn
ENST00000683287.1:c.1110G>T	ENSP00000507607.1:p.Lys370Asn
ENST00000683714.1:c.1082G>T	ENSP00000508207.1:p.Arg361Met
ENST00000684396.1:n.1114G>T
ENST00000685320.1:c.489G>T	ENSP00000509319.1:p.Lys163Asn
ENST00000690257.1:c.978G>T	ENSP00000510750.1:p.Lys326Asn
ENST00000355527.8:c.1074G>T MANE Select	ENSP00000347717.4:p.Lys358Asn
ENST00000355527.7:c.1074G>T	ENSP00000347717.3:p.Lys358Asn
ENST00000407721.6:c.1074G>T	ENSP00000384739.2:p.Lys358Asn
ENST00000525137.1:c.575G>T	ENSP00000435956.1:p.Arg192Met
ENST00000533800.5:c.324G>T	ENSP00000435011.1:p.Lys108Asn
ENST00000534795.5:c.319+2083G>T
NM_001163817.1:c.1074G>T	NP_001157289.1:p.Lys358Asn
NM_001360.2:c.1074G>T , LRG_340t1:c.1074G>T	NP_001351.2:p.Lys358Asn
XM_011544777.1:c.1208G>T	XP_011543079.1:p.Arg403Met
XM_011544777.2:c.1208G>T	XP_011543079.1:p.Arg403Met
NM_001163817.2:c.1074G>T	NP_001157289.1:p.Lys358Asn
NM_001360.3:c.1074G>T MANE Select	NP_001351.2:p.Lys358Asn