Canonical Allele Identifier: CA16611301
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 410336
dbSNP Id: rs267599574
COSMIC: COSM350721

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122262362C>A , CM000665.2:g.122262362C>A GRCh38
NC_000003.11:g.121981209C>A , CM000665.1:g.121981209C>A GRCh37
NC_000003.10:g.123463899C>A NCBI36
NG_009058.1:g.83680C>A
NG_009058.2:g.83695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1327C>A ENSP00000418685.2:p.Leu443Ile
ENST00000498619.4:c.1327C>A ENSP00000420194.1:p.Leu443Ile
ENST00000638421.1:c.1327C>A ENSP00000492190.1:p.Leu443Ile
ENST00000639785.2:c.1327C>A MANE Select ENSP00000491584.2:p.Leu443Ile
ENST00000490131.5:c.1327C>A ENSP00000418685.1:p.Leu443Ile
ENST00000498619.2:c.1327C>A ENSP00000420194.1:p.Leu443Ile
NM_000388.3:c.1327C>A NP_000379.2:p.Leu443Ile
NM_001178065.1:c.1327C>A NP_001171536.1:p.Leu443Ile
XM_005247836.2:c.1327C>A XP_005247893.1:p.Leu443Ile
XM_005247837.2:c.844C>A XP_005247894.1:p.Leu282Ile
XM_006713789.2:c.1327C>A XP_006713852.1:p.Leu443Ile
XM_011513237.1:c.1327C>A XP_011511539.1:p.Leu443Ile
XM_011513238.1:c.1327C>A XP_011511540.1:p.Leu443Ile
XM_011513239.1:c.739C>A XP_011511541.1:p.Leu247Ile
XM_006713789.3:c.1327C>A XP_006713852.1:p.Leu443Ile
XM_017007324.1:c.1327C>A XP_016862813.1:p.Leu443Ile
XM_017007325.1:c.1327C>A XP_016862814.1:p.Leu443Ile
NM_000388.4:c.1327C>A MANE Select NP_000379.3:p.Leu443Ile
NM_001178065.2:c.1327C>A NP_001171536.2:p.Leu443Ile