Canonical Allele Identifier: CA212891

Gene: CASR

Linked Data

• ClinVar Variation Id: 8331
• ClinVar RCV Id: RCV000008833 ; RCV000516668 ; RCV000524505 ; RCV002265551 ; RCV002496308
• dbSNP Id: rs28936684
• ExAC: 3:121980562 G / A
• gnomAD v2: 3-121980562-G-A
• gnomAD v4: 3-122261715-G-A
• COSMIC: COSM373124
• MyVariant Identifiers: chr3:g.121980562G>A (hg19) ; chr3:g.122261715G>A (hg38)
• PubMed: PMID:1302026 ; PMID:7726161 ; PMID:15572418 ; PMID:19389809 ; PMID:19759318 ; PMID:27666534

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261715G>A , CM000665.2:g.122261715G>A	GRCh38
NC_000003.11:g.121980562G>A , CM000665.1:g.121980562G>A	GRCh37
NC_000003.10:g.123463252G>A	NCBI36
NG_009058.1:g.83033G>A
NG_009058.2:g.83048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.680G>A	ENSP00000418685.2:p.Arg227Gln
ENST00000498619.4:c.680G>A	ENSP00000420194.1:p.Arg227Gln
ENST00000638421.1:c.680G>A	ENSP00000492190.1:p.Arg227Gln
ENST00000639785.2:c.680G>A MANE Select	ENSP00000491584.2:p.Arg227Gln
ENST00000490131.5:c.680G>A	ENSP00000418685.1:p.Arg227Gln
ENST00000498619.2:c.680G>A	ENSP00000420194.1:p.Arg227Gln
NM_000388.3:c.680G>A	NP_000379.2:p.Arg227Gln
NM_001178065.1:c.680G>A	NP_001171536.1:p.Arg227Gln
XM_005247836.2:c.680G>A	XP_005247893.1:p.Arg227Gln
XM_005247837.2:c.197G>A	XP_005247894.1:p.Arg66Gln
XM_006713789.2:c.680G>A	XP_006713852.1:p.Arg227Gln
XM_011513237.1:c.680G>A	XP_011511539.1:p.Arg227Gln
XM_011513238.1:c.680G>A	XP_011511540.1:p.Arg227Gln
XM_011513239.1:c.92G>A	XP_011511541.1:p.Arg31Gln
XM_006713789.3:c.680G>A	XP_006713852.1:p.Arg227Gln
XM_017007324.1:c.680G>A	XP_016862813.1:p.Arg227Gln
XM_017007325.1:c.680G>A	XP_016862814.1:p.Arg227Gln
NM_000388.4:c.680G>A MANE Select	NP_000379.3:p.Arg227Gln
NM_001178065.2:c.680G>A	NP_001171536.2:p.Arg227Gln