Canonical Allele Identifier: CA119529
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8348
ClinVar RCV Id: RCV000008853
dbSNP Id: rs104893711

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284316T>C , CM000665.2:g.122284316T>C GRCh38
NC_000003.11:g.122003163T>C , CM000665.1:g.122003163T>C GRCh37
NC_000003.10:g.123485853T>C NCBI36
NG_009058.1:g.105634T>C

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.2362T>C VV NP_000379.2:p.Phe788Leu
NM_001178065.1:c.2392T>C VV NP_001171536.1:p.Phe798Leu
XM_005247836.2:c.2362T>C XP_005247893.1:p.Phe788Leu
XM_005247837.2:c.1879T>C XP_005247894.1:p.Phe627Leu
XM_006713789.2:c.2362T>C XP_006713852.1:p.Phe788Leu
XM_011513237.1:c.2362T>C XP_011511539.1:p.Phe788Leu
XM_011513238.1:c.2362T>C XP_011511540.1:p.Phe788Leu
XM_011513239.1:c.1774T>C XP_011511541.1:p.Phe592Leu
XM_006713789.3:c.2362T>C XP_006713852.1:p.Phe788Leu
XM_017007324.1:c.2362T>C XP_016862813.1:p.Phe788Leu
XM_017007325.1:c.2362T>C XP_016862814.1:p.Phe788Leu
ENST00000490131.5:c.2362T>C ENSP00000418685.1:p.Phe788Leu
ENST00000498619.2:c.2392T>C ENSP00000420194.1:p.Phe798Leu