Canonical Allele Identifier: CA2569799

Gene: CASR

Linked Data

• ClinVar Variation Id: 410321
• ClinVar RCV Id: RCV000470653 ; RCV004022759
• dbSNP Id: rs562364178
• ExAC: 3:122003037 G / A
• gnomAD v2: 3-122003037-G-A
• gnomAD v3: 3-122284190-G-A
• gnomAD v4: 3-122284190-G-A
• MyVariant Identifiers: chr3:g.122003037G>A (hg19) ; chr3:g.122284190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284190G>A , CM000665.2:g.122284190G>A	GRCh38
NC_000003.11:g.122003037G>A , CM000665.1:g.122003037G>A	GRCh37
NC_000003.10:g.123485727G>A	NCBI36
NG_009058.1:g.105508G>A
NG_009058.2:g.105523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2005G>A	ENSP00000418685.2:p.Ala669Thr
ENST00000498619.4:c.2266G>A	ENSP00000420194.1:p.Ala756Thr
ENST00000638421.1:c.2236G>A	ENSP00000492190.1:p.Ala746Thr
ENST00000639785.2:c.2236G>A MANE Select	ENSP00000491584.2:p.Ala746Thr
ENST00000490131.5:c.2236G>A	ENSP00000418685.1:p.Ala746Thr
ENST00000498619.2:c.2266G>A	ENSP00000420194.1:p.Ala756Thr
NM_000388.3:c.2236G>A	NP_000379.2:p.Ala746Thr
NM_001178065.1:c.2266G>A	NP_001171536.1:p.Ala756Thr
XM_005247836.2:c.2236G>A	XP_005247893.1:p.Ala746Thr
XM_005247837.2:c.1753G>A	XP_005247894.1:p.Ala585Thr
XM_006713789.2:c.2236G>A	XP_006713852.1:p.Ala746Thr
XM_011513237.1:c.2236G>A	XP_011511539.1:p.Ala746Thr
XM_011513238.1:c.2236G>A	XP_011511540.1:p.Ala746Thr
XM_011513239.1:c.1648G>A	XP_011511541.1:p.Ala550Thr
XM_006713789.3:c.2236G>A	XP_006713852.1:p.Ala746Thr
XM_017007324.1:c.2236G>A	XP_016862813.1:p.Ala746Thr
XM_017007325.1:c.2236G>A	XP_016862814.1:p.Ala746Thr
NM_000388.4:c.2236G>A MANE Select	NP_000379.3:p.Ala746Thr
NM_001178065.2:c.2266G>A	NP_001171536.2:p.Ala756Thr