Canonical Allele Identifier: CA16041555

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 371480
• ClinVar RCV Id: RCV000409542
• dbSNP Id: rs1057517307
• gnomAD v4: 11-71441441-C-T
• MyVariant Identifiers: chr11:g.71152487C>T (hg19) ; chr11:g.71441441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441441C>T , CM000673.2:g.71441441C>T	GRCh38
NC_000011.9:g.71152487C>T , CM000673.1:g.71152487C>T	GRCh37
NC_000011.8:g.70830135C>T	NCBI36
NG_012655.2:g.11991G>A , LRG_340:g.11991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.413-1G>A	ENSP00000435707.3:n.413-1G>A
ENST00000526780.6:c.413-1G>A	ENSP00000435668.2:n.413-1G>A
ENST00000527316.6:c.239-1G>A	ENSP00000435047.2:n.239-1G>A
ENST00000682708.1:c.413-1G>A	ENSP00000506866.1:n.413-1G>A
ENST00000682880.1:c.413-1G>A	ENSP00000507520.1:n.413-1G>A
ENST00000683287.1:c.449-1G>A	ENSP00000507607.1:n.449-1G>A
ENST00000683714.1:c.413-1G>A	ENSP00000508207.1:n.413-1G>A
ENST00000683874.1:n.690-1G>A
ENST00000685320.1:c.-173-1G>A	ENSP00000509319.1:n.-173-1G>A
ENST00000690257.1:c.317-1G>A	ENSP00000510750.1:n.317-1G>A
ENST00000355527.8:c.413-1G>A MANE Select	ENSP00000347717.4:n.413-1G>A
ENST00000355527.7:c.413-1G>A	ENSP00000347717.3:n.413-1G>A
ENST00000407721.6:c.413-1G>A	ENSP00000384739.2:n.413-1G>A
ENST00000526780.5:c.413-1G>A	ENSP00000435668.1:n.413-1G>A
ENST00000527316.5:c.317-1G>A	ENSP00000435047.1:n.317-1G>A
NM_001163817.1:c.413-1G>A	NP_001157289.1:n.413-1G>A
NM_001360.2:c.413-1G>A , LRG_340t1:c.413-1G>A	NP_001351.2:n.413-1G>A
XM_011544777.1:c.413-1G>A	XP_011543079.1:n.413-1G>A
XM_011544777.2:c.413-1G>A	XP_011543079.1:n.413-1G>A
NM_001163817.2:c.413-1G>A	NP_001157289.1:n.413-1G>A
NM_001360.3:c.413-1G>A MANE Select	NP_001351.2:n.413-1G>A