Canonical Allele Identifier: CA224325618

Gene: DHCR7

Linked Data

• dbSNP Id: rs912389722
• gnomAD v3: 11-71436850-T-C
• gnomAD v4: 11-71436850-T-C
• MyVariant Identifiers: chr11:g.71147896T>C (hg19) ; chr11:g.71436850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436850T>C , CM000673.2:g.71436850T>C	GRCh38
NC_000011.9:g.71147896T>C , CM000673.1:g.71147896T>C	GRCh37
NC_000011.8:g.70825544T>C	NCBI36
NG_012655.2:g.16582A>G , LRG_340:g.16582A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+962A>G	ENSP00000435707.3:n.963+962A>G
ENST00000526780.6:c.963+962A>G	ENSP00000435668.2:n.963+962A>G
ENST00000527316.6:c.789+962A>G	ENSP00000435047.2:n.789+962A>G
ENST00000682708.1:c.1014+962A>G	ENSP00000506866.1:n.1014+962A>G
ENST00000682880.1:c.*824A>G	ENSP00000507520.1:n.*824A>G
ENST00000683287.1:c.999+962A>G	ENSP00000507607.1:n.999+962A>G
ENST00000683714.1:c.971+954A>G	ENSP00000508207.1:n.971+954A>G
ENST00000684396.1:n.1003+962A>G
ENST00000685320.1:c.378+962A>G	ENSP00000509319.1:n.378+962A>G
ENST00000690257.1:c.867+962A>G	ENSP00000510750.1:n.867+962A>G
ENST00000355527.8:c.963+962A>G MANE Select	ENSP00000347717.4:n.963+962A>G
ENST00000355527.7:c.963+962A>G	ENSP00000347717.3:n.963+962A>G
ENST00000407721.6:c.963+962A>G	ENSP00000384739.2:n.963+962A>G
ENST00000525137.1:c.331-877A>G	ENSP00000435956.1:n.331-877A>G
ENST00000533800.5:c.213+962A>G	ENSP00000435011.1:n.213+962A>G
ENST00000534795.5:c.319+962A>G
NM_001163817.1:c.963+962A>G	NP_001157289.1:n.963+962A>G
NM_001360.2:c.963+962A>G , LRG_340t1:c.963+962A>G	NP_001351.2:n.963+962A>G
XM_011544777.1:c.964-877A>G	XP_011543079.1:n.964-877A>G
XM_011544777.2:c.964-877A>G	XP_011543079.1:n.964-877A>G
NM_001163817.2:c.963+962A>G	NP_001157289.1:n.963+962A>G
NM_001360.3:c.963+962A>G MANE Select	NP_001351.2:n.963+962A>G