Canonical Allele Identifier: CA600051338

Gene: DHCR7

Linked Data

• dbSNP Id: rs1351903852
• gnomAD v2: 11-71145703-T-C
• MyVariant Identifiers: chr11:g.71145703T>C (hg19) ; chr11:g.71434657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434657T>C , CM000673.2:g.71434657T>C	GRCh38
NC_000011.9:g.71145703T>C , CM000673.1:g.71145703T>C	GRCh37
NC_000011.8:g.70823351T>C	NCBI36
NG_012655.2:g.18775A>G , LRG_340:g.18775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*718A>G	ENSP00000435707.3:n.*718A>G
ENST00000526780.6:c.*718A>G	ENSP00000435668.2:n.*718A>G
ENST00000682708.1:c.*718A>G	ENSP00000506866.1:n.*718A>G
ENST00000683287.1:c.*718A>G	ENSP00000507607.1:n.*718A>G
ENST00000683714.1:c.*909A>G	ENSP00000508207.1:n.*909A>G
ENST00000684396.1:n.2186A>G
ENST00000685320.1:c.*718A>G	ENSP00000509319.1:n.*718A>G
ENST00000690257.1:c.*718A>G	ENSP00000510750.1:n.*718A>G
ENST00000355527.8:c.*718A>G MANE Select	ENSP00000347717.4:n.*718A>G
ENST00000355527.7:c.*718A>G	ENSP00000347717.3:n.*718A>G
ENST00000407721.6:c.*718A>G	ENSP00000384739.2:n.*718A>G
ENST00000534795.5:c.319+3155A>G
NM_001163817.1:c.*718A>G	NP_001157289.1:n.*718A>G
NM_001360.2:c.*718A>G , LRG_340t1:c.*718A>G	NP_001351.2:n.*718A>G
XM_011544777.1:c.*909A>G	XP_011543079.1:n.*909A>G
XM_011544777.2:c.*909A>G	XP_011543079.1:n.*909A>G
NM_001163817.2:c.*718A>G	NP_001157289.1:n.*718A>G
NM_001360.3:c.*718A>G MANE Select	NP_001351.2:n.*718A>G