Canonical Allele Identifier: CA10639313

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 305939
• ClinVar RCV Id: RCV000280360
• dbSNP Id: rs886048614
• gnomAD v3: 11-71434731-C-T
• gnomAD v4: 11-71434731-C-T
• MyVariant Identifiers: chr11:g.71145777C>T (hg19) ; chr11:g.71434731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434731C>T , CM000673.2:g.71434731C>T	GRCh38
NC_000011.9:g.71145777C>T , CM000673.1:g.71145777C>T	GRCh37
NC_000011.8:g.70823425C>T	NCBI36
NG_012655.2:g.18701G>A , LRG_340:g.18701G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.*644G>A	ENSP00000435707.3:n.*644G>A
ENST00000526780.6:c.*644G>A	ENSP00000435668.2:n.*644G>A
ENST00000682708.1:c.*644G>A	ENSP00000506866.1:n.*644G>A
ENST00000683287.1:c.*644G>A	ENSP00000507607.1:n.*644G>A
ENST00000683714.1:c.*835G>A	ENSP00000508207.1:n.*835G>A
ENST00000684396.1:n.2112G>A
ENST00000685320.1:c.*644G>A	ENSP00000509319.1:n.*644G>A
ENST00000690257.1:c.*644G>A	ENSP00000510750.1:n.*644G>A
ENST00000355527.8:c.*644G>A MANE Select	ENSP00000347717.4:n.*644G>A
ENST00000355527.7:c.*644G>A	ENSP00000347717.3:n.*644G>A
ENST00000407721.6:c.*644G>A	ENSP00000384739.2:n.*644G>A
ENST00000534795.5:c.319+3081G>A
NM_001163817.1:c.*644G>A	NP_001157289.1:n.*644G>A
NM_001360.2:c.*644G>A , LRG_340t1:c.*644G>A	NP_001351.2:n.*644G>A
XM_011544777.1:c.*835G>A	XP_011543079.1:n.*835G>A
XM_011544777.2:c.*835G>A	XP_011543079.1:n.*835G>A
NM_001163817.2:c.*644G>A	NP_001157289.1:n.*644G>A
NM_001360.3:c.*644G>A MANE Select	NP_001351.2:n.*644G>A