Canonical Allele Identifier: CA463327589

Linked Data

ClinVar Variation Id: 447228

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142876241C>T , CM000670.2:g.142876241C>T GRCh38
NC_000008.10:g.143957657C>T , CM000670.1:g.143957657C>T GRCh37
NC_000008.9:g.143954659C>T NCBI36
NG_007954.1:g.8580G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000292427.10:c.954G>A (CYP11B1) MANE Select ENSP00000292427.5:p.Thr318=
ENST00000292427.8:c.954G>A ENSP00000292427.4:p.Thr318=
ENST00000314111.4:n.987G>A
ENST00000377675.3:c.1167G>A ENSP00000366903.3:p.Thr389=
ENST00000517471.5:c.954G>A ENSP00000428043.1:p.Thr318=
ENST00000522728.5:c.181+35016C>T ENSP00000430799.1:p.=
NM_000497.3:c.954G>A (CYP11B1) NP_000488.3:p.Thr318=
NM_001026213.1:c.954G>A (CYP11B1) NP_001021384.1:p.Thr318=
XM_011516870.1:c.1032G>A (CYP11B1) XP_011515172.1:p.Thr344=
XM_011516871.1:c.1032G>A (CYP11B1) XP_011515173.1:p.Thr344=
XM_011516872.1:c.954G>A (CYP11B1) XP_011515174.1:p.Thr318=
XM_011516873.1:c.1032G>A (CYP11B1) XP_011515175.1:p.Thr344=
XM_011516874.1:c.1032G>A (CYP11B1) XP_011515176.1:p.Thr344=
XM_011516875.1:c.771G>A (CYP11B1) XP_011515177.1:p.Thr257=
XM_011516876.1:c.1032G>A (CYP11B1) XP_011515178.1:p.Thr344=
XM_011516970.1:c.214+35016C>T (GML) XP_011515272.1:p.=
NM_000497.4:c.954G>A (CYP11B1) MANE Select NP_000488.3:p.Thr318=