Canonical Allele Identifier: CA10616999

Gene: CASR

Linked Data

• ClinVar Variation Id: 342793
• ClinVar RCV Id: RCV000280456 ; RCV000317765 ; RCV000349433 ; RCV000375010
• dbSNP Id: rs201074178
• gnomAD v3: 3-122254053-C-A
• gnomAD v4: 3-122254053-C-A
• MyVariant Identifiers: chr3:g.121972900C>A (hg19) ; chr3:g.122254053C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254053C>A , CM000665.2:g.122254053C>A	GRCh38
NC_000003.11:g.121972900C>A , CM000665.1:g.121972900C>A	GRCh37
NC_000003.10:g.123455590C>A	NCBI36
NG_009058.1:g.75371C>A
NG_009058.2:g.75386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.-137C>A	ENSP00000418685.2:n.-137C>A
ENST00000498619.4:c.-137C>A	ENSP00000420194.1:n.-137C>A
ENST00000638421.1:c.-137C>A	ENSP00000492190.1:n.-137C>A
ENST00000639785.2:c.-137C>A MANE Select	ENSP00000491584.2:n.-137C>A
ENST00000490131.5:c.-137C>A	ENSP00000418685.1:n.-137C>A
ENST00000498619.2:c.-137C>A	ENSP00000420194.1:n.-137C>A
NM_000388.3:c.-137C>A	NP_000379.2:n.-137C>A
NM_001178065.1:c.-137C>A	NP_001171536.1:n.-137C>A
XM_005247836.2:c.-137C>A	XP_005247893.1:n.-137C>A
XM_006713789.2:c.-137C>A	XP_006713852.1:n.-137C>A
XM_011513237.1:c.-137C>A	XP_011511539.1:n.-137C>A
XM_011513238.1:c.-137C>A	XP_011511540.1:n.-137C>A
XM_006713789.3:c.-137C>A	XP_006713852.1:n.-137C>A
XM_017007324.1:c.-137C>A	XP_016862813.1:n.-137C>A
XM_017007325.1:c.-137C>A	XP_016862814.1:n.-137C>A
NM_000388.4:c.-137C>A MANE Select	NP_000379.3:n.-137C>A
NM_001178065.2:c.-137C>A	NP_001171536.2:n.-137C>A