Canonical Allele Identifier: CA82749231

Gene: CASR

Linked Data

• ClinVar Variation Id: 2947883
• ClinVar RCV Id: RCV003804513
• dbSNP Id: rs922534407
• gnomAD v3: 3-122284725-T-C
• gnomAD v4: 3-122284725-T-C
• MyVariant Identifiers: chr3:g.122003572T>C (hg19) ; chr3:g.122284725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284725T>C , CM000665.2:g.122284725T>C	GRCh38
NC_000003.11:g.122003572T>C , CM000665.1:g.122003572T>C	GRCh37
NC_000003.10:g.123486262T>C	NCBI36
NG_009058.1:g.106043T>C
NG_009058.2:g.106058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2540T>C	ENSP00000418685.2:p.Phe847Ser
ENST00000498619.4:c.2801T>C	ENSP00000420194.1:p.Phe934Ser
ENST00000638421.1:c.2771T>C	ENSP00000492190.1:p.Phe924Ser
ENST00000639785.2:c.2771T>C MANE Select	ENSP00000491584.2:p.Phe924Ser
ENST00000490131.5:c.2771T>C	ENSP00000418685.1:p.Phe924Ser
ENST00000498619.2:c.2801T>C	ENSP00000420194.1:p.Phe934Ser
NM_000388.3:c.2771T>C	NP_000379.2:p.Phe924Ser
NM_001178065.1:c.2801T>C	NP_001171536.1:p.Phe934Ser
XM_005247836.2:c.2771T>C	XP_005247893.1:p.Phe924Ser
XM_005247837.2:c.2288T>C	XP_005247894.1:p.Phe763Ser
XM_006713789.2:c.2771T>C	XP_006713852.1:p.Phe924Ser
XM_011513237.1:c.2771T>C	XP_011511539.1:p.Phe924Ser
XM_011513238.1:c.2771T>C	XP_011511540.1:p.Phe924Ser
XM_011513239.1:c.2183T>C	XP_011511541.1:p.Phe728Ser
XM_006713789.3:c.2771T>C	XP_006713852.1:p.Phe924Ser
XM_017007324.1:c.2771T>C	XP_016862813.1:p.Phe924Ser
XM_017007325.1:c.2771T>C	XP_016862814.1:p.Phe924Ser
NM_000388.4:c.2771T>C MANE Select	NP_000379.3:p.Phe924Ser
NM_001178065.2:c.2801T>C	NP_001171536.2:p.Phe934Ser