Canonical Allele Identifier: CA2569589

Gene: CASR

Linked Data

• ClinVar Variation Id: 463891
• ClinVar RCV Id: RCV000537669 ; RCV000764462
• dbSNP Id: rs200771541
• ExAC: 3:121980973 C / A
• gnomAD v2: 3-121980973-C-A
• gnomAD v3: 3-122262126-C-A
• gnomAD v4: 3-122262126-C-A
• MyVariant Identifiers: chr3:g.121980973C>A (hg19) ; chr3:g.122262126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262126C>A , CM000665.2:g.122262126C>A	GRCh38
NC_000003.11:g.121980973C>A , CM000665.1:g.121980973C>A	GRCh37
NC_000003.10:g.123463663C>A	NCBI36
NG_009058.1:g.83444C>A
NG_009058.2:g.83459C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1091C>A	ENSP00000418685.2:p.Ala364Glu
ENST00000498619.4:c.1091C>A	ENSP00000420194.1:p.Ala364Glu
ENST00000638421.1:c.1091C>A	ENSP00000492190.1:p.Ala364Glu
ENST00000639785.2:c.1091C>A MANE Select	ENSP00000491584.2:p.Ala364Glu
ENST00000490131.5:c.1091C>A	ENSP00000418685.1:p.Ala364Glu
ENST00000498619.2:c.1091C>A	ENSP00000420194.1:p.Ala364Glu
NM_000388.3:c.1091C>A	NP_000379.2:p.Ala364Glu
NM_001178065.1:c.1091C>A	NP_001171536.1:p.Ala364Glu
XM_005247836.2:c.1091C>A	XP_005247893.1:p.Ala364Glu
XM_005247837.2:c.608C>A	XP_005247894.1:p.Ala203Glu
XM_006713789.2:c.1091C>A	XP_006713852.1:p.Ala364Glu
XM_011513237.1:c.1091C>A	XP_011511539.1:p.Ala364Glu
XM_011513238.1:c.1091C>A	XP_011511540.1:p.Ala364Glu
XM_011513239.1:c.503C>A	XP_011511541.1:p.Ala168Glu
XM_006713789.3:c.1091C>A	XP_006713852.1:p.Ala364Glu
XM_017007324.1:c.1091C>A	XP_016862813.1:p.Ala364Glu
XM_017007325.1:c.1091C>A	XP_016862814.1:p.Ala364Glu
NM_000388.4:c.1091C>A MANE Select	NP_000379.3:p.Ala364Glu
NM_001178065.2:c.1091C>A	NP_001171536.2:p.Ala364Glu