Canonical Allele Identifier: CA4905677

Linked Data

ClinVar Variation Id: 362169
dbSNP Id: rs6410

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142879589T>C , CM000670.2:g.142879589T>C GRCh38
NC_000008.10:g.143961005T>C , CM000670.1:g.143961005T>C GRCh37
NC_000008.9:g.143958007T>C NCBI36
NG_007954.1:g.5232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.225A>G (CYP11B1) MANE Select ENSP00000292427.5:p.Leu75=
ENST00000292427.8:c.225A>G ENSP00000292427.4:p.Leu75=
ENST00000314111.4:n.258A>G
ENST00000377675.3:c.225A>G ENSP00000366903.3:p.Leu75=
ENST00000517471.5:c.225A>G ENSP00000428043.1:p.Leu75=
ENST00000522728.5:c.182-34374T>C ENSP00000430799.1:p.=
NM_000497.3:c.225A>G (CYP11B1) NP_000488.3:p.Leu75=
NM_001026213.1:c.225A>G (CYP11B1) NP_001021384.1:p.Leu75=
XM_011516870.1:c.225A>G (CYP11B1) XP_011515172.1:p.Leu75=
XM_011516871.1:c.225A>G (CYP11B1) XP_011515173.1:p.Leu75=
XM_011516872.1:c.225A>G (CYP11B1) XP_011515174.1:p.Leu75=
XM_011516873.1:c.225A>G (CYP11B1) XP_011515175.1:p.Leu75=
XM_011516874.1:c.225A>G (CYP11B1) XP_011515176.1:p.Leu75=
XM_011516876.1:c.225A>G (CYP11B1) XP_011515178.1:p.Leu75=
XM_011516970.1:c.215-34374T>C (GML) XP_011515272.1:p.=
NM_000497.4:c.225A>G (CYP11B1) MANE Select NP_000488.3:p.Leu75=