Canonical Allele Identifier: CA213670

Identifiers and link-outs to other resources

ClinVar Variation Id: 35990
ClinVar RCV Id: RCV000029648
dbSNP Id: rs193922541

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142876680A>G , CM000670.2:g.142876680A>G GRCh38
NC_000008.10:g.143958096A>G , CM000670.1:g.143958096A>G GRCh37
NC_000008.9:g.143955098A>G NCBI36
NG_007954.1:g.8141T>C

Transcript Alleles

HGVS Amino-acid change
NM_000497.3:c.799+2T>C (CYP11B1) VV NP_000488.3:p.=
NM_001026213.1:c.799+2T>C (CYP11B1) VV NP_001021384.1:p.=
XM_011516870.1:c.877+2T>C (CYP11B1) XP_011515172.1:p.=
XM_011516871.1:c.877+2T>C (CYP11B1) XP_011515173.1:p.=
XM_011516872.1:c.799+2T>C (CYP11B1) XP_011515174.1:p.=
XM_011516873.1:c.877+2T>C (CYP11B1) XP_011515175.1:p.=
XM_011516874.1:c.877+2T>C (CYP11B1) XP_011515176.1:p.=
XM_011516875.1:c.616+2T>C (CYP11B1) XP_011515177.1:p.=
XM_011516876.1:c.877+2T>C (CYP11B1) XP_011515178.1:p.=
XM_011516970.1:c.214+35455A>G (GML) XP_011515272.1:p.=
ENST00000292427.8:c.799+2T>C ENSP00000292427.4:p.=
ENST00000314111.4:n.832+2T>C
ENST00000377675.3:c.1012+2T>C ENSP00000366903.3:p.=
ENST00000517471.5:c.799+2T>C ENSP00000428043.1:p.=
ENST00000522728.5:c.181+35455A>G ENSP00000430799.1:p.=