Canonical Allele Identifier: CA354160871

Gene: CASR

Linked Data

• ClinVar Variation Id: 1409223
• ClinVar RCV Id: RCV001930326
• dbSNP Id: rs2107651317
• gnomAD v4: 3-122284787-C-A
• MyVariant Identifiers: chr3:g.122003634C>A (hg19) ; chr3:g.122284787C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284787C>A , CM000665.2:g.122284787C>A	GRCh38
NC_000003.11:g.122003634C>A , CM000665.1:g.122003634C>A	GRCh37
NC_000003.10:g.123486324C>A	NCBI36
NG_009058.1:g.106105C>A
NG_009058.2:g.106120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2602C>A	ENSP00000418685.2:p.Gln868Lys
ENST00000498619.4:c.2863C>A	ENSP00000420194.1:p.Gln955Lys
ENST00000638421.1:c.2833C>A	ENSP00000492190.1:p.Gln945Lys
ENST00000639785.2:c.2833C>A MANE Select	ENSP00000491584.2:p.Gln945Lys
ENST00000490131.5:c.2833C>A	ENSP00000418685.1:p.Gln945Lys
ENST00000498619.2:c.2863C>A	ENSP00000420194.1:p.Gln955Lys
NM_000388.3:c.2833C>A	NP_000379.2:p.Gln945Lys
NM_001178065.1:c.2863C>A	NP_001171536.1:p.Gln955Lys
XM_005247836.2:c.2833C>A	XP_005247893.1:p.Gln945Lys
XM_005247837.2:c.2350C>A	XP_005247894.1:p.Gln784Lys
XM_006713789.2:c.2833C>A	XP_006713852.1:p.Gln945Lys
XM_011513237.1:c.2833C>A	XP_011511539.1:p.Gln945Lys
XM_011513238.1:c.2833C>A	XP_011511540.1:p.Gln945Lys
XM_011513239.1:c.2245C>A	XP_011511541.1:p.Gln749Lys
XM_006713789.3:c.2833C>A	XP_006713852.1:p.Gln945Lys
XM_017007324.1:c.2833C>A	XP_016862813.1:p.Gln945Lys
XM_017007325.1:c.2833C>A	XP_016862814.1:p.Gln945Lys
NM_000388.4:c.2833C>A MANE Select	NP_000379.3:p.Gln945Lys
NM_001178065.2:c.2863C>A	NP_001171536.2:p.Gln955Lys