Canonical Allele Identifier: CA463326351

Gene: CYP11B1 GML

Linked Data

• ClinVar Variation Id: 1629981
• ClinVar RCV Id: RCV002118726
• dbSNP Id: rs1485513981
• gnomAD v2: 8-143957142-G-C
• gnomAD v4: 8-142875726-G-C
• MyVariant Identifiers: chr8:g.143957142G>C (hg19) ; chr8:g.142875726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142875726G>C , CM000670.2:g.142875726G>C	GRCh38
NC_000008.10:g.143957142G>C , CM000670.1:g.143957142G>C	GRCh37
NC_000008.9:g.143954144G>C	NCBI36
NG_007954.1:g.9095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.1107C>G (CYP11B1) MANE Select	ENSP00000292427.5:p.Leu369=
ENST00000292427.8:c.1107C>G (CYP11B1)	ENSP00000292427.4:p.Leu369=
ENST00000314111.4:n.1502C>G (CYP11B1)
ENST00000377675.3:c.1320C>G (CYP11B1)	ENSP00000366903.3:p.Leu440=
ENST00000517471.5:c.1107C>G (CYP11B1)	ENSP00000428043.1:p.Leu369=
ENST00000519285.5:c.72C>G (CYP11B1)	ENSP00000430144.1:p.Leu24=
ENST00000522728.5:c.181+34501G>C (GML)	ENSP00000430799.1:n.181+34501G>C
NM_000497.3:c.1107C>G (CYP11B1)	NP_000488.3:p.Leu369=
NM_001026213.1:c.1107C>G (CYP11B1)	NP_001021384.1:p.Leu369=
XM_011516870.1:c.1185C>G (CYP11B1)	XP_011515172.1:p.Leu395=
XM_011516871.1:c.1185C>G (CYP11B1)	XP_011515173.1:p.Leu395=
XM_011516872.1:c.1107C>G (CYP11B1)	XP_011515174.1:p.Leu369=
XM_011516873.1:c.1185C>G (CYP11B1)	XP_011515175.1:p.Leu395=
XM_011516874.1:c.1185C>G (CYP11B1)	XP_011515176.1:p.Leu395=
XM_011516875.1:c.924C>G (CYP11B1)	XP_011515177.1:p.Leu308=
XM_011516876.1:c.1185C>G (CYP11B1)	XP_011515178.1:p.Leu395=
XM_011516970.1:c.214+34501G>C (GML)	XP_011515272.1:n.214+34501G>C
NM_000497.4:c.1107C>G (CYP11B1) MANE Select	NP_000488.3:p.Leu369=