Canonical Allele Identifier: CA585726624

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 447222
• ClinVar RCV Id: RCV000518608 ; RCV000668755 ; RCV003403212 ; RCV002481670
• dbSNP Id: rs1256580853
• gnomAD v2: 8-143956668-GT-G
• gnomAD v3: 8-142875252-GT-G
• gnomAD v4: 8-142875252-GT-G
• MyVariant Identifiers: chr8:g.143956669del (hg19) ; chr8:g.142875253del (hg38)
• PubMed: PMID:10487675

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875254del , CM000670.2:g.142875254del	GRCh38
NC_000008.10:g.143956670del , CM000670.1:g.143956670del	GRCh37
NC_000008.9:g.143953672del	NCBI36
NG_007954.1:g.9568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1181del (CYP11B1) MANE Select	ENSP00000292427.5:p.Asn394ThrfsTer?
ENST00000292427.8:c.1181del (CYP11B1)	ENSP00000292427.4:p.Asn394ThrfsTer?
ENST00000314111.4:n.1576del (CYP11B1)
ENST00000377675.3:c.1394del (CYP11B1)	ENSP00000366903.3:p.Asn465ThrfsTer?
ENST00000517471.5:c.1181del (CYP11B1)	ENSP00000428043.1:p.Asn394ThrfsTer9
ENST00000519285.5:c.215del (CYP11B1)	ENSP00000430144.1:p.Asn72ThrfsTer?
ENST00000522728.5:c.181+34029del (GML)	ENSP00000430799.1:n.181+34029del
NM_000497.3:c.1181del (CYP11B1)	NP_000488.3:p.Asn394ThrfsTer?
NM_001026213.1:c.1181del (CYP11B1)	NP_001021384.1:p.Asn394ThrfsTer9
XM_011516870.1:c.1328del (CYP11B1)	XP_011515172.1:p.Asn443ThrfsTer?
XM_011516871.1:c.1259del (CYP11B1)	XP_011515173.1:p.Asn420ThrfsTer?
XM_011516872.1:c.1250del (CYP11B1)	XP_011515174.1:p.Asn417ThrfsTer?
XM_011516873.1:c.1328del (CYP11B1)	XP_011515175.1:p.Asn443ThrfsTer?
XM_011516874.1:c.1259del (CYP11B1)	XP_011515176.1:p.Asn420ThrfsTer?
XM_011516875.1:c.1067del (CYP11B1)	XP_011515177.1:p.Asn356ThrfsTer?
XM_011516876.1:c.1328del (CYP11B1)	XP_011515178.1:p.Asn443ThrfsTer9
XM_011516970.1:c.214+34029del (GML)	XP_011515272.1:n.214+34029del
NM_000497.4:c.1181del (CYP11B1) MANE Select	NP_000488.3:p.Asn394ThrfsTer?