Canonical Allele Identifier: CA16043395

Gene: CASR

Linked Data

• ClinVar Variation Id: 374153
• ClinVar RCV Id: RCV000415394 ; RCV000991745 ; RCV001379697 ; RCV003401408 ; RCV002488857
• dbSNP Id: rs1057518933
• COSMIC: COSM3408178
• MyVariant Identifiers: chr3:g.122003250G>A (hg19) ; chr3:g.122284403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284403G>A , CM000665.2:g.122284403G>A	GRCh38
NC_000003.11:g.122003250G>A , CM000665.1:g.122003250G>A	GRCh37
NC_000003.10:g.123485940G>A	NCBI36
NG_009058.1:g.105721G>A
NG_009058.2:g.105736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2218G>A	ENSP00000418685.2:p.Val740Ile
ENST00000498619.4:c.2479G>A	ENSP00000420194.1:p.Val827Ile
ENST00000638421.1:c.2449G>A	ENSP00000492190.1:p.Val817Ile
ENST00000639785.2:c.2449G>A MANE Select	ENSP00000491584.2:p.Val817Ile
ENST00000490131.5:c.2449G>A	ENSP00000418685.1:p.Val817Ile
ENST00000498619.2:c.2479G>A	ENSP00000420194.1:p.Val827Ile
NM_000388.3:c.2449G>A	NP_000379.2:p.Val817Ile
NM_001178065.1:c.2479G>A	NP_001171536.1:p.Val827Ile
XM_005247836.2:c.2449G>A	XP_005247893.1:p.Val817Ile
XM_005247837.2:c.1966G>A	XP_005247894.1:p.Val656Ile
XM_006713789.2:c.2449G>A	XP_006713852.1:p.Val817Ile
XM_011513237.1:c.2449G>A	XP_011511539.1:p.Val817Ile
XM_011513238.1:c.2449G>A	XP_011511540.1:p.Val817Ile
XM_011513239.1:c.1861G>A	XP_011511541.1:p.Val621Ile
XM_006713789.3:c.2449G>A	XP_006713852.1:p.Val817Ile
XM_017007324.1:c.2449G>A	XP_016862813.1:p.Val817Ile
XM_017007325.1:c.2449G>A	XP_016862814.1:p.Val817Ile
NM_000388.4:c.2449G>A MANE Select	NP_000379.3:p.Val817Ile
NM_001178065.2:c.2479G>A	NP_001171536.2:p.Val827Ile