Canonical Allele Identifier: CA16604790
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 379567
ClinVar RCV Id: RCV000441373
dbSNP Id: rs1057520646
MyVariant Identifiers: chr3:g.122003412G>T (hg19) chr3:g.122284565G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284565G>T , CM000665.2:g.122284565G>T GRCh38
NC_000003.11:g.122003412G>T , CM000665.1:g.122003412G>T GRCh37
NC_000003.10:g.123486102G>T NCBI36
NG_009058.1:g.105883G>T
NG_009058.2:g.105898G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.2380G>T ENSP00000418685.2:p.Glu794Ter
ENST00000498619.4:c.2641G>T ENSP00000420194.1:p.Glu881Ter
ENST00000638421.1:c.2611G>T ENSP00000492190.1:p.Glu871Ter
ENST00000639785.2:c.2611G>T MANE Select ENSP00000491584.2:p.Glu871Ter
ENST00000490131.5:c.2611G>T ENSP00000418685.1:p.Glu871Ter
ENST00000498619.2:c.2641G>T ENSP00000420194.1:p.Glu881Ter
NM_000388.3:c.2611G>T NP_000379.2:p.Glu871Ter
NM_001178065.1:c.2641G>T NP_001171536.1:p.Glu881Ter
XM_005247836.2:c.2611G>T XP_005247893.1:p.Glu871Ter
XM_005247837.2:c.2128G>T XP_005247894.1:p.Glu710Ter
XM_006713789.2:c.2611G>T XP_006713852.1:p.Glu871Ter
XM_011513237.1:c.2611G>T XP_011511539.1:p.Glu871Ter
XM_011513238.1:c.2611G>T XP_011511540.1:p.Glu871Ter
XM_011513239.1:c.2023G>T XP_011511541.1:p.Glu675Ter
XM_006713789.3:c.2611G>T XP_006713852.1:p.Glu871Ter
XM_017007324.1:c.2611G>T XP_016862813.1:p.Glu871Ter
XM_017007325.1:c.2611G>T XP_016862814.1:p.Glu871Ter
NM_000388.4:c.2611G>T MANE Select NP_000379.3:p.Glu871Ter
NM_001178065.2:c.2641G>T NP_001171536.2:p.Glu881Ter
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