Canonical Allele Identifier: CA6162334

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 384536
• ClinVar RCV Id: RCV000428469 ; RCV000734339 ; RCV001274174
• dbSNP Id: rs369382960
• ExAC: 11:71146838 G / A
• gnomAD v2: 11-71146838-G-A
• gnomAD v3: 11-71435792-G-A
• gnomAD v4: 11-71435792-G-A
• MyVariant Identifiers: chr11:g.71146838G>A (hg19) ; chr11:g.71435792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435792G>A , CM000673.2:g.71435792G>A	GRCh38
NC_000011.9:g.71146838G>A , CM000673.1:g.71146838G>A	GRCh37
NC_000011.8:g.70824486G>A	NCBI36
NG_012655.2:g.17640C>T , LRG_340:g.17640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1011C>T	ENSP00000435707.3:p.Ala337=
ENST00000526780.6:c.1011C>T	ENSP00000435668.2:p.Ala337=
ENST00000527316.6:c.837C>T	ENSP00000435047.2:p.Ala279=
ENST00000682708.1:c.1062C>T	ENSP00000506866.1:p.Ala354=
ENST00000683287.1:c.1047C>T	ENSP00000507607.1:p.Ala349=
ENST00000683714.1:c.1019C>T	ENSP00000508207.1:p.Pro340Leu
ENST00000684396.1:n.1051C>T
ENST00000685320.1:c.426C>T	ENSP00000509319.1:p.Ala142=
ENST00000690257.1:c.915C>T	ENSP00000510750.1:p.Ala305=
ENST00000355527.8:c.1011C>T MANE Select	ENSP00000347717.4:p.Ala337=
ENST00000355527.7:c.1011C>T	ENSP00000347717.3:p.Ala337=
ENST00000407721.6:c.1011C>T	ENSP00000384739.2:p.Ala337=
ENST00000525137.1:c.512C>T	ENSP00000435956.1:p.Pro171Leu
ENST00000533800.5:c.261C>T	ENSP00000435011.1:p.Ala87=
ENST00000534795.5:c.319+2020C>T
NM_001163817.1:c.1011C>T	NP_001157289.1:p.Ala337=
NM_001360.2:c.1011C>T , LRG_340t1:c.1011C>T	NP_001351.2:p.Ala337=
XM_011544777.1:c.1145C>T	XP_011543079.1:p.Pro382Leu
XM_011544777.2:c.1145C>T	XP_011543079.1:p.Pro382Leu
NM_001163817.2:c.1011C>T	NP_001157289.1:p.Ala337=
NM_001360.3:c.1011C>T MANE Select	NP_001351.2:p.Ala337=