Canonical Allele Identifier: CA119531

Gene: CASR

Linked Data

• ClinVar Variation Id: 8349
• ClinVar RCV Id: RCV000008854 ; RCV000152933 ; RCV000299158 ; RCV000356249 ; RCV000343555 ; RCV000405678 ; RCV001269361 ; RCV001510800 ; RCV004018599
• dbSNP Id: rs1801725
• ExAC: 3:122003757 G / T
• gnomAD v2: 3-122003757-G-T
• gnomAD v3: 3-122284910-G-T
• gnomAD v4: 3-122284910-G-T
• MyVariant Identifiers: chr3:g.122003757G>T (hg19) ; chr3:g.122284910G>T (hg38)
• PubMed: PMID:8636323 ; PMID:10023897 ; PMID:10217111 ; PMID:10912749 ; PMID:11161843 ; PMID:11248745 ; PMID:11580999 ; PMID:11733622 ; PMID:12018449 ; PMID:12040821 ; PMID:12052452 ; PMID:12239240 ; PMID:12574201 ; PMID:14508624 ; PMID:14997007 ; PMID:15531522 ; PMID:15864123 ; PMID:16497624 ; PMID:17018660 ; PMID:17117288 ; PMID:17309124 ; PMID:17320849 ; PMID:17332735 ; PMID:17698911 ; PMID:18328986 ; PMID:18680227 ; PMID:19694204 ; PMID:20602573 ; PMID:22024717 ; PMID:25705702 ; PMID:26107257

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284910G>T , CM000665.2:g.122284910G>T	GRCh38
NC_000003.11:g.122003757G>T , CM000665.1:g.122003757G>T	GRCh37
NC_000003.10:g.123486447G>T	NCBI36
NG_009058.1:g.106228G>T
NG_009058.2:g.106243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2725G>T	ENSP00000418685.2:p.Ala909Ser
ENST00000498619.4:c.2986G>T	ENSP00000420194.1:p.Ala996Ser
ENST00000638421.1:c.2956G>T	ENSP00000492190.1:p.Ala986Ser
ENST00000639785.2:c.2956G>T MANE Select	ENSP00000491584.2:p.Ala986Ser
ENST00000490131.5:c.2956G>T	ENSP00000418685.1:p.Ala986Ser
ENST00000498619.2:c.2986G>T	ENSP00000420194.1:p.Ala996Ser
NM_000388.3:c.2956G>T	NP_000379.2:p.Ala986Ser
NM_001178065.1:c.2986G>T	NP_001171536.1:p.Ala996Ser
XM_005247836.2:c.2956G>T	XP_005247893.1:p.Ala986Ser
XM_005247837.2:c.2473G>T	XP_005247894.1:p.Ala825Ser
XM_006713789.2:c.2956G>T	XP_006713852.1:p.Ala986Ser
XM_011513237.1:c.2956G>T	XP_011511539.1:p.Ala986Ser
XM_011513238.1:c.2956G>T	XP_011511540.1:p.Ala986Ser
XM_011513239.1:c.2368G>T	XP_011511541.1:p.Ala790Ser
XM_006713789.3:c.2956G>T	XP_006713852.1:p.Ala986Ser
XM_017007324.1:c.2956G>T	XP_016862813.1:p.Ala986Ser
XM_017007325.1:c.2956G>T	XP_016862814.1:p.Ala986Ser
NM_000388.4:c.2956G>T MANE Select	NP_000379.3:p.Ala986Ser
NM_001178065.2:c.2986G>T	NP_001171536.2:p.Ala996Ser