Canonical Allele Identifier: CA4904951

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1099048
• ClinVar RCV Id: RCV001421231
• dbSNP Id: rs576292844
• ExAC: 8:143955861 G / A
• gnomAD v2: 8-143955861-G-A
• gnomAD v3: 8-142874445-G-A
• gnomAD v4: 8-142874445-G-A
• MyVariant Identifiers: chr8:g.143955861G>A (hg19) ; chr8:g.142874445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874445G>A , CM000670.2:g.142874445G>A	GRCh38
NC_000008.10:g.143955861G>A , CM000670.1:g.143955861G>A	GRCh37
NC_000008.9:g.143952863G>A	NCBI36
NG_007954.1:g.10376C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292427.10:c.1440C>T (CYP11B1) MANE Select	ENSP00000292427.5:p.Asp480=
ENST00000292427.8:c.1440C>T (CYP11B1)	ENSP00000292427.4:p.Asp480=
ENST00000314111.4:n.1637C>T (CYP11B1)
ENST00000377675.3:c.1653C>T (CYP11B1)	ENSP00000366903.3:p.Asp551=
ENST00000517471.5:c.1242C>T (CYP11B1)	ENSP00000428043.1:p.Asp414=
ENST00000519285.5:c.474C>T (CYP11B1)	ENSP00000430144.1:p.Asp158=
ENST00000522728.5:c.181+33220G>A (GML)	ENSP00000430799.1:n.181+33220G>A
NM_000497.3:c.1440C>T (CYP11B1)	NP_000488.3:p.Asp480=
NM_001026213.1:c.1242C>T (CYP11B1)	NP_001021384.1:p.Asp414=
XM_011516870.1:c.1678C>T (CYP11B1)	XP_011515172.1:p.His560Tyr
XM_011516871.1:c.1609C>T (CYP11B1)	XP_011515173.1:p.His537Tyr
XM_011516872.1:c.1600C>T (CYP11B1)	XP_011515174.1:p.His534Tyr
XM_011516873.1:c.1587C>T (CYP11B1)	XP_011515175.1:p.Asp529=
XM_011516874.1:c.1518C>T (CYP11B1)	XP_011515176.1:p.Asp506=
XM_011516875.1:c.1417C>T (CYP11B1)	XP_011515177.1:p.His473Tyr
XM_011516876.1:c.1389C>T (CYP11B1)	XP_011515178.1:p.Asp463=
XM_011516970.1:c.214+33220G>A (GML)	XP_011515272.1:n.214+33220G>A
NM_000497.4:c.1440C>T (CYP11B1) MANE Select	NP_000488.3:p.Asp480=