Canonical Allele Identifier: CA600051919

Gene: DHCR7

Linked Data

• dbSNP Id: rs1218133218
• gnomAD v2: 11-71148992-G-A
• MyVariant Identifiers: chr11:g.71148992G>A (hg19) ; chr11:g.71437946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437946G>A , CM000673.2:g.71437946G>A	GRCh38
NC_000011.9:g.71148992G>A , CM000673.1:g.71148992G>A	GRCh37
NC_000011.8:g.70826640G>A	NCBI36
NG_012655.2:g.15486C>T , LRG_340:g.15486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.832-3C>T	ENSP00000435707.3:n.832-3C>T
ENST00000526780.6:c.832-3C>T	ENSP00000435668.2:n.832-3C>T
ENST00000527316.6:c.658-3C>T	ENSP00000435047.2:n.658-3C>T
ENST00000682708.1:c.883-3C>T	ENSP00000506866.1:n.883-3C>T
ENST00000682880.1:c.832-3C>T	ENSP00000507520.1:n.832-3C>T
ENST00000683287.1:c.868-3C>T	ENSP00000507607.1:n.868-3C>T
ENST00000683714.1:c.832-3C>T	ENSP00000508207.1:n.832-3C>T
ENST00000684396.1:n.872-3C>T
ENST00000685320.1:c.247-3C>T	ENSP00000509319.1:n.247-3C>T
ENST00000690257.1:c.736-3C>T	ENSP00000510750.1:n.736-3C>T
ENST00000355527.8:c.832-3C>T MANE Select	ENSP00000347717.4:n.832-3C>T
ENST00000355527.7:c.832-3C>T	ENSP00000347717.3:n.832-3C>T
ENST00000407721.6:c.832-3C>T	ENSP00000384739.2:n.832-3C>T
ENST00000525137.1:c.199-3C>T	ENSP00000435956.1:n.199-3C>T
ENST00000527316.5:c.736-3C>T	ENSP00000435047.1:n.736-3C>T
ENST00000533800.5:c.82-3C>T	ENSP00000435011.1:n.82-3C>T
ENST00000534795.5:c.188-3C>T
NM_001163817.1:c.832-3C>T	NP_001157289.1:n.832-3C>T
NM_001360.2:c.832-3C>T , LRG_340t1:c.832-3C>T	NP_001351.2:n.832-3C>T
XM_011544777.1:c.832-3C>T	XP_011543079.1:n.832-3C>T
XM_011544777.2:c.832-3C>T	XP_011543079.1:n.832-3C>T
NM_001163817.2:c.832-3C>T	NP_001157289.1:n.832-3C>T
NM_001360.3:c.832-3C>T MANE Select	NP_001351.2:n.832-3C>T