Canonical Allele Identifier: CA119469

Gene: CASR

Linked Data

• ClinVar Variation Id: 8313
• ClinVar RCV Id: RCV000008811 ; RCV000008812 ; RCV002228021
• dbSNP Id: rs121909259
• gnomAD v4: 3-122261924-G-A
• MyVariant Identifiers: chr3:g.121980771G>A (hg19) ; chr3:g.122261924G>A (hg38)
• PubMed: PMID:6543841 ; PMID:7916660

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261924G>A , CM000665.2:g.122261924G>A	GRCh38
NC_000003.11:g.121980771G>A , CM000665.1:g.121980771G>A	GRCh37
NC_000003.10:g.123463461G>A	NCBI36
NG_009058.1:g.83242G>A
NG_009058.2:g.83257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.889G>A	ENSP00000418685.2:p.Glu297Lys
ENST00000498619.4:c.889G>A	ENSP00000420194.1:p.Glu297Lys
ENST00000638421.1:c.889G>A	ENSP00000492190.1:p.Glu297Lys
ENST00000639785.2:c.889G>A MANE Select	ENSP00000491584.2:p.Glu297Lys
ENST00000490131.5:c.889G>A	ENSP00000418685.1:p.Glu297Lys
ENST00000498619.2:c.889G>A	ENSP00000420194.1:p.Glu297Lys
NM_000388.3:c.889G>A	NP_000379.2:p.Glu297Lys
NM_001178065.1:c.889G>A	NP_001171536.1:p.Glu297Lys
XM_005247836.2:c.889G>A	XP_005247893.1:p.Glu297Lys
XM_005247837.2:c.406G>A	XP_005247894.1:p.Glu136Lys
XM_006713789.2:c.889G>A	XP_006713852.1:p.Glu297Lys
XM_011513237.1:c.889G>A	XP_011511539.1:p.Glu297Lys
XM_011513238.1:c.889G>A	XP_011511540.1:p.Glu297Lys
XM_011513239.1:c.301G>A	XP_011511541.1:p.Glu101Lys
XM_006713789.3:c.889G>A	XP_006713852.1:p.Glu297Lys
XM_017007324.1:c.889G>A	XP_016862813.1:p.Glu297Lys
XM_017007325.1:c.889G>A	XP_016862814.1:p.Glu297Lys
NM_000388.4:c.889G>A MANE Select	NP_000379.3:p.Glu297Lys
NM_001178065.2:c.889G>A	NP_001171536.2:p.Glu297Lys