Canonical Allele Identifier: CA119509

Gene: CASR

Linked Data

• ClinVar Variation Id: 8336
• ClinVar RCV Id: RCV000008838 ; RCV001851748 ; RCV004018595
• dbSNP Id: rs104893701
• MyVariant Identifiers: chr3:g.122003164T>G (hg19) ; chr3:g.122284317T>G (hg38)
• PubMed: PMID:9661634

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284317T>G , CM000665.2:g.122284317T>G	GRCh38
NC_000003.11:g.122003164T>G , CM000665.1:g.122003164T>G	GRCh37
NC_000003.10:g.123485854T>G	NCBI36
NG_009058.1:g.105635T>G
NG_009058.2:g.105650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2132T>G	ENSP00000418685.2:p.Phe711Cys
ENST00000498619.4:c.2393T>G	ENSP00000420194.1:p.Phe798Cys
ENST00000638421.1:c.2363T>G	ENSP00000492190.1:p.Phe788Cys
ENST00000639785.2:c.2363T>G MANE Select	ENSP00000491584.2:p.Phe788Cys
ENST00000490131.5:c.2363T>G	ENSP00000418685.1:p.Phe788Cys
ENST00000498619.2:c.2393T>G	ENSP00000420194.1:p.Phe798Cys
NM_000388.3:c.2363T>G	NP_000379.2:p.Phe788Cys
NM_001178065.1:c.2393T>G	NP_001171536.1:p.Phe798Cys
XM_005247836.2:c.2363T>G	XP_005247893.1:p.Phe788Cys
XM_005247837.2:c.1880T>G	XP_005247894.1:p.Phe627Cys
XM_006713789.2:c.2363T>G	XP_006713852.1:p.Phe788Cys
XM_011513237.1:c.2363T>G	XP_011511539.1:p.Phe788Cys
XM_011513238.1:c.2363T>G	XP_011511540.1:p.Phe788Cys
XM_011513239.1:c.1775T>G	XP_011511541.1:p.Phe592Cys
XM_006713789.3:c.2363T>G	XP_006713852.1:p.Phe788Cys
XM_017007324.1:c.2363T>G	XP_016862813.1:p.Phe788Cys
XM_017007325.1:c.2363T>G	XP_016862814.1:p.Phe788Cys
NM_000388.4:c.2363T>G MANE Select	NP_000379.3:p.Phe788Cys
NM_001178065.2:c.2393T>G	NP_001171536.2:p.Phe798Cys