Canonical Allele Identifier: CA4905549

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1141260
• ClinVar RCV Id: RCV001478647
• dbSNP Id: rs748036339
• ExAC: 8:143960492 C / T
• gnomAD v2: 8-143960492-C-T
• gnomAD v4: 8-142879076-C-T
• MyVariant Identifiers: chr8:g.143960492C>T (hg19) ; chr8:g.142879076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142879076C>T , CM000670.2:g.142879076C>T	GRCh38
NC_000008.10:g.143960492C>T , CM000670.1:g.143960492C>T	GRCh37
NC_000008.9:g.143957494C>T	NCBI36
NG_007954.1:g.5745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.351G>A (CYP11B1) MANE Select	ENSP00000292427.5:p.Val117=
ENST00000292427.8:c.351G>A (CYP11B1)	ENSP00000292427.4:p.Val117=
ENST00000314111.4:n.384G>A (CYP11B1)
ENST00000377675.3:c.486G>A (CYP11B1)	ENSP00000366903.3:p.Val162=
ENST00000517471.5:c.351G>A (CYP11B1)	ENSP00000428043.1:p.Val117=
ENST00000522728.5:c.182-34887C>T (GML)	ENSP00000430799.1:n.182-34887C>T
NM_000497.3:c.351G>A (CYP11B1)	NP_000488.3:p.Val117=
NM_001026213.1:c.351G>A (CYP11B1)	NP_001021384.1:p.Val117=
XM_011516870.1:c.351G>A (CYP11B1)	XP_011515172.1:p.Val117=
XM_011516871.1:c.351G>A (CYP11B1)	XP_011515173.1:p.Val117=
XM_011516872.1:c.351G>A (CYP11B1)	XP_011515174.1:p.Val117=
XM_011516873.1:c.351G>A (CYP11B1)	XP_011515175.1:p.Val117=
XM_011516874.1:c.351G>A (CYP11B1)	XP_011515176.1:p.Val117=
XM_011516875.1:c.90G>A (CYP11B1)	XP_011515177.1:p.Val30=
XM_011516876.1:c.351G>A (CYP11B1)	XP_011515178.1:p.Val117=
XM_011516970.1:c.215-34887C>T (GML)	XP_011515272.1:n.215-34887C>T
NM_000497.4:c.351G>A (CYP11B1) MANE Select	NP_000488.3:p.Val117=