Canonical Allele Identifier: CA381703198

Gene: DHCR7

Linked Data

• dbSNP Id: rs1354657059
• gnomAD v2: 11-71149932-A-G
• gnomAD v3: 11-71438886-A-G
• gnomAD v4: 11-71438886-A-G
• MyVariant Identifiers: chr11:g.71149932A>G (hg19) ; chr11:g.71438886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438886A>G , CM000673.2:g.71438886A>G	GRCh38
NC_000011.9:g.71149932A>G , CM000673.1:g.71149932A>G	GRCh37
NC_000011.8:g.70827580A>G	NCBI36
NG_012655.2:g.14546T>C , LRG_340:g.14546T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.824T>C	ENSP00000435707.3:p.Val275Ala
ENST00000526780.6:c.824T>C	ENSP00000435668.2:p.Val275Ala
ENST00000527316.6:c.650T>C	ENSP00000435047.2:p.Val217Ala
ENST00000682708.1:c.875T>C	ENSP00000506866.1:p.Val292Ala
ENST00000682880.1:c.824T>C	ENSP00000507520.1:p.Val275Ala
ENST00000683287.1:c.860T>C	ENSP00000507607.1:p.Val287Ala
ENST00000683714.1:c.824T>C	ENSP00000508207.1:p.Val275Ala
ENST00000684396.1:n.864T>C
ENST00000685320.1:c.239T>C	ENSP00000509319.1:p.Val80Ala
ENST00000690257.1:c.728T>C	ENSP00000510750.1:p.Val243Ala
ENST00000355527.8:c.824T>C MANE Select	ENSP00000347717.4:p.Val275Ala
ENST00000355527.7:c.824T>C	ENSP00000347717.3:p.Val275Ala
ENST00000407721.6:c.824T>C	ENSP00000384739.2:p.Val275Ala
ENST00000525137.1:c.191T>C	ENSP00000435956.1:p.Val64Ala
ENST00000527316.5:c.728T>C	ENSP00000435047.1:p.Val243Ala
ENST00000533800.5:c.74T>C	ENSP00000435011.1:p.Val25Ala
ENST00000534701.1:n.319T>C
ENST00000534795.5:c.180T>C
NM_001163817.1:c.824T>C	NP_001157289.1:p.Val275Ala
NM_001360.2:c.824T>C , LRG_340t1:c.824T>C	NP_001351.2:p.Val275Ala
XM_011544777.1:c.824T>C	XP_011543079.1:p.Val275Ala
XM_011544777.2:c.824T>C	XP_011543079.1:p.Val275Ala
NM_001163817.2:c.824T>C	NP_001157289.1:p.Val275Ala
NM_001360.3:c.824T>C MANE Select	NP_001351.2:p.Val275Ala