Canonical Allele Identifier: CA435425688
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 1797058
ClinVar RCV Id: RCV004062475
MyVariant Identifiers: chr3:g.122003672G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284825G>A , CM000665.2:g.122284825G>A GRCh38
NC_000003.11:g.122003672G>A , CM000665.1:g.122003672G>A GRCh37
NC_000003.10:g.123486362G>A NCBI36
NG_009058.1:g.106143G>A
NG_009058.2:g.106158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2640G>A ENSP00000418685.2:p.Gln880=
ENST00000498619.4:c.2901G>A ENSP00000420194.1:p.Gln967=
ENST00000638421.1:c.2871G>A ENSP00000492190.1:p.Gln957=
ENST00000639785.2:c.2871G>A MANE Select ENSP00000491584.2:p.Gln957=
ENST00000490131.5:c.2871G>A ENSP00000418685.1:p.Gln957=
ENST00000498619.2:c.2901G>A ENSP00000420194.1:p.Gln967=
NM_000388.3:c.2871G>A NP_000379.2:p.Gln957=
NM_001178065.1:c.2901G>A NP_001171536.1:p.Gln967=
XM_005247836.2:c.2871G>A XP_005247893.1:p.Gln957=
XM_005247837.2:c.2388G>A XP_005247894.1:p.Gln796=
XM_006713789.2:c.2871G>A XP_006713852.1:p.Gln957=
XM_011513237.1:c.2871G>A XP_011511539.1:p.Gln957=
XM_011513238.1:c.2871G>A XP_011511540.1:p.Gln957=
XM_011513239.1:c.2283G>A XP_011511541.1:p.Gln761=
XM_006713789.3:c.2871G>A XP_006713852.1:p.Gln957=
XM_017007324.1:c.2871G>A XP_016862813.1:p.Gln957=
XM_017007325.1:c.2871G>A XP_016862814.1:p.Gln957=
NM_000388.4:c.2871G>A MANE Select NP_000379.3:p.Gln957=
NM_001178065.2:c.2901G>A NP_001171536.2:p.Gln967=