Canonical Allele Identifier: CA381702529

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2735694
• ClinVar RCV Id: RCV003508852
• COSMIC: COSM3452900 ; COSM3452901
• MyVariant Identifiers: chr11:g.71146863G>A (hg19) ; chr11:g.71435817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435817G>A , CM000673.2:g.71435817G>A	GRCh38
NC_000011.9:g.71146863G>A , CM000673.1:g.71146863G>A	GRCh37
NC_000011.8:g.70824511G>A	NCBI36
NG_012655.2:g.17615C>T , LRG_340:g.17615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.986C>T	ENSP00000435707.3:p.Pro329Leu
ENST00000526780.6:c.986C>T	ENSP00000435668.2:p.Pro329Leu
ENST00000527316.6:c.812C>T	ENSP00000435047.2:p.Pro271Leu
ENST00000682708.1:c.1037C>T	ENSP00000506866.1:p.Pro346Leu
ENST00000683287.1:c.1022C>T	ENSP00000507607.1:p.Pro341Leu
ENST00000683714.1:c.994C>T	ENSP00000508207.1:p.Pro332Ser
ENST00000684396.1:n.1026C>T
ENST00000685320.1:c.401C>T	ENSP00000509319.1:p.Pro134Leu
ENST00000690257.1:c.890C>T	ENSP00000510750.1:p.Pro297Leu
ENST00000355527.8:c.986C>T MANE Select	ENSP00000347717.4:p.Pro329Leu
ENST00000355527.7:c.986C>T	ENSP00000347717.3:p.Pro329Leu
ENST00000407721.6:c.986C>T	ENSP00000384739.2:p.Pro329Leu
ENST00000525137.1:c.487C>T	ENSP00000435956.1:p.Pro163Ser
ENST00000533800.5:c.236C>T	ENSP00000435011.1:p.Pro79Leu
ENST00000534795.5:c.319+1995C>T
NM_001163817.1:c.986C>T	NP_001157289.1:p.Pro329Leu
NM_001360.2:c.986C>T , LRG_340t1:c.986C>T	NP_001351.2:p.Pro329Leu
XM_011544777.1:c.1120C>T	XP_011543079.1:p.Pro374Ser
XM_011544777.2:c.1120C>T	XP_011543079.1:p.Pro374Ser
NM_001163817.2:c.986C>T	NP_001157289.1:p.Pro329Leu
NM_001360.3:c.986C>T MANE Select	NP_001351.2:p.Pro329Leu