Canonical Allele Identifier: CA381694688

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 558625
• ClinVar RCV Id: RCV000674923
• dbSNP Id: rs1555146475
• gnomAD v4: 11-71441420-T-G
• MyVariant Identifiers: chr11:g.71152466T>G (hg19) ; chr11:g.71441420T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441420T>G , CM000673.2:g.71441420T>G	GRCh38
NC_000011.9:g.71152466T>G , CM000673.1:g.71152466T>G	GRCh37
NC_000011.8:g.70830114T>G	NCBI36
NG_012655.2:g.12012A>C , LRG_340:g.12012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.433A>C	ENSP00000435707.3:p.Ile145Leu
ENST00000526780.6:c.433A>C	ENSP00000435668.2:p.Ile145Leu
ENST00000527316.6:c.259A>C	ENSP00000435047.2:p.Ile87Leu
ENST00000682708.1:c.433A>C	ENSP00000506866.1:p.Ile145Leu
ENST00000682880.1:c.433A>C	ENSP00000507520.1:p.Ile145Leu
ENST00000683287.1:c.469A>C	ENSP00000507607.1:p.Ile157Leu
ENST00000683714.1:c.433A>C	ENSP00000508207.1:p.Ile145Leu
ENST00000683874.1:n.710A>C
ENST00000685320.1:c.-153A>C	ENSP00000509319.1:n.-153A>C
ENST00000690257.1:c.337A>C	ENSP00000510750.1:p.Ile113Leu
ENST00000355527.8:c.433A>C MANE Select	ENSP00000347717.4:p.Ile145Leu
ENST00000355527.7:c.433A>C	ENSP00000347717.3:p.Ile145Leu
ENST00000407721.6:c.433A>C	ENSP00000384739.2:p.Ile145Leu
ENST00000526780.5:c.433A>C	ENSP00000435668.1:p.Ile145Leu
ENST00000527316.5:c.337A>C	ENSP00000435047.1:p.Ile113Leu
NM_001163817.1:c.433A>C	NP_001157289.1:p.Ile145Leu
NM_001360.2:c.433A>C , LRG_340t1:c.433A>C	NP_001351.2:p.Ile145Leu
XM_011544777.1:c.433A>C	XP_011543079.1:p.Ile145Leu
XM_011544777.2:c.433A>C	XP_011543079.1:p.Ile145Leu
NM_001163817.2:c.433A>C	NP_001157289.1:p.Ile145Leu
NM_001360.3:c.433A>C MANE Select	NP_001351.2:p.Ile145Leu