Canonical Allele Identifier: CA6162481

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 445437
• ClinVar RCV Id: RCV000513933 ; RCV000763769 ; RCV002271517 ; RCV002314895
• dbSNP Id: rs148609143
• ExAC: 11:71150037 T / C
• gnomAD v2: 11-71150037-T-C
• gnomAD v3: 11-71438991-T-C
• gnomAD v4: 11-71438991-T-C
• MyVariant Identifiers: chr11:g.71150037T>C (hg19) ; chr11:g.71438991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438991T>C , CM000673.2:g.71438991T>C	GRCh38
NC_000011.9:g.71150037T>C , CM000673.1:g.71150037T>C	GRCh37
NC_000011.8:g.70827685T>C	NCBI36
NG_012655.2:g.14441A>G , LRG_340:g.14441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.719A>G	ENSP00000435707.3:p.Asn240Ser
ENST00000526780.6:c.719A>G	ENSP00000435668.2:p.Asn240Ser
ENST00000527316.6:c.545A>G	ENSP00000435047.2:p.Asn182Ser
ENST00000682708.1:c.770A>G	ENSP00000506866.1:p.Asn257Ser
ENST00000682880.1:c.719A>G	ENSP00000507520.1:p.Asn240Ser
ENST00000683287.1:c.755A>G	ENSP00000507607.1:p.Asn252Ser
ENST00000683714.1:c.719A>G	ENSP00000508207.1:p.Asn240Ser
ENST00000684396.1:n.759A>G
ENST00000685320.1:c.134A>G	ENSP00000509319.1:p.Asn45Ser
ENST00000690257.1:c.623A>G	ENSP00000510750.1:p.Asn208Ser
ENST00000355527.8:c.719A>G MANE Select	ENSP00000347717.4:p.Asn240Ser
ENST00000355527.7:c.719A>G	ENSP00000347717.3:p.Asn240Ser
ENST00000407721.6:c.719A>G	ENSP00000384739.2:p.Asn240Ser
ENST00000525137.1:c.86A>G	ENSP00000435956.1:p.Asn29Ser
ENST00000527316.5:c.623A>G	ENSP00000435047.1:p.Asn208Ser
ENST00000534701.1:n.214A>G
ENST00000534795.5:c.75A>G
NM_001163817.1:c.719A>G	NP_001157289.1:p.Asn240Ser
NM_001360.2:c.719A>G , LRG_340t1:c.719A>G	NP_001351.2:p.Asn240Ser
XM_011544777.1:c.719A>G	XP_011543079.1:p.Asn240Ser
XM_011544777.2:c.719A>G	XP_011543079.1:p.Asn240Ser
NM_001163817.2:c.719A>G	NP_001157289.1:p.Asn240Ser
NM_001360.3:c.719A>G MANE Select	NP_001351.2:p.Asn240Ser