Canonical Allele Identifier: CA2569938

Gene: CASR

Linked Data

• ClinVar Variation Id: 1058527
• ClinVar RCV Id: RCV001367678
• dbSNP Id: rs765519865
• ExAC: 3:122003936 G / C
• gnomAD v2: 3-122003936-G-C
• gnomAD v3: 3-122285089-G-C
• gnomAD v4: 3-122285089-G-C
• MyVariant Identifiers: chr3:g.122003936G>C (hg19) ; chr3:g.122285089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285089G>C , CM000665.2:g.122285089G>C	GRCh38
NC_000003.11:g.122003936G>C , CM000665.1:g.122003936G>C	GRCh37
NC_000003.10:g.123486626G>C	NCBI36
NG_009058.1:g.106407G>C
NG_009058.2:g.106422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2904G>C	ENSP00000418685.2:p.Glu968Asp
ENST00000498619.4:c.3165G>C	ENSP00000420194.1:p.Glu1055Asp
ENST00000638421.1:c.3135G>C	ENSP00000492190.1:p.Glu1045Asp
ENST00000639785.2:c.3135G>C MANE Select	ENSP00000491584.2:p.Glu1045Asp
ENST00000490131.5:c.3135G>C	ENSP00000418685.1:p.Glu1045Asp
ENST00000498619.2:c.3165G>C	ENSP00000420194.1:p.Glu1055Asp
NM_000388.3:c.3135G>C	NP_000379.2:p.Glu1045Asp
NM_001178065.1:c.3165G>C	NP_001171536.1:p.Glu1055Asp
XM_005247836.2:c.3135G>C	XP_005247893.1:p.Glu1045Asp
XM_005247837.2:c.2652G>C	XP_005247894.1:p.Glu884Asp
XM_006713789.2:c.3135G>C	XP_006713852.1:p.Glu1045Asp
XM_011513237.1:c.3135G>C	XP_011511539.1:p.Glu1045Asp
XM_011513238.1:c.3135G>C	XP_011511540.1:p.Glu1045Asp
XM_011513239.1:c.2547G>C	XP_011511541.1:p.Glu849Asp
XM_006713789.3:c.3135G>C	XP_006713852.1:p.Glu1045Asp
XM_017007324.1:c.3135G>C	XP_016862813.1:p.Glu1045Asp
XM_017007325.1:c.3135G>C	XP_016862814.1:p.Glu1045Asp
NM_000388.4:c.3135G>C MANE Select	NP_000379.3:p.Glu1045Asp
NM_001178065.2:c.3165G>C	NP_001171536.2:p.Glu1055Asp