Canonical Allele Identifier: CA463505756

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 2029778
• ClinVar RCV Id: RCV002863863
• gnomAD v4: 8-142875243-G-A
• MyVariant Identifiers: chr8:g.143956659G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875243G>A , CM000670.2:g.142875243G>A	GRCh38
NC_000008.10:g.143956659G>A , CM000670.1:g.143956659G>A	GRCh37
NC_000008.9:g.143953661G>A	NCBI36
NG_007954.1:g.9578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1191C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Ile397=
ENST00000292427.8:c.1191C>T (CYP11B1)	ENSP00000292427.4:p.Ile397=
ENST00000314111.4:n.1586C>T (CYP11B1)
ENST00000377675.3:c.1404C>T (CYP11B1)	ENSP00000366903.3:p.Ile468=
ENST00000517471.5:c.1191C>T (CYP11B1)	ENSP00000428043.1:p.Ile397=
ENST00000519285.5:c.225C>T (CYP11B1)	ENSP00000430144.1:p.Ile75=
ENST00000522728.5:c.181+34018G>A (GML)	ENSP00000430799.1:n.181+34018G>A
NM_000497.3:c.1191C>T (CYP11B1)	NP_000488.3:p.Ile397=
NM_001026213.1:c.1191C>T (CYP11B1)	NP_001021384.1:p.Ile397=
XM_011516870.1:c.1338C>T (CYP11B1)	XP_011515172.1:p.Ile446=
XM_011516871.1:c.1269C>T (CYP11B1)	XP_011515173.1:p.Ile423=
XM_011516872.1:c.1260C>T (CYP11B1)	XP_011515174.1:p.Ile420=
XM_011516873.1:c.1338C>T (CYP11B1)	XP_011515175.1:p.Ile446=
XM_011516874.1:c.1269C>T (CYP11B1)	XP_011515176.1:p.Ile423=
XM_011516875.1:c.1077C>T (CYP11B1)	XP_011515177.1:p.Ile359=
XM_011516876.1:c.1338C>T (CYP11B1)	XP_011515178.1:p.Ile446=
XM_011516970.1:c.214+34018G>A (GML)	XP_011515272.1:n.214+34018G>A
NM_000497.4:c.1191C>T (CYP11B1) MANE Select	NP_000488.3:p.Ile397=