Canonical Allele Identifier: CA354161816

Gene: CASR

Linked Data

• ClinVar Variation Id: 843402
• ClinVar RCV Id: RCV001046019 ; RCV004031420
• dbSNP Id: rs748855270
• gnomAD v2: 3-122004024-G-T
• gnomAD v4: 3-122285177-G-T
• MyVariant Identifiers: chr3:g.122004024G>T (hg19) ; chr3:g.122285177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285177G>T , CM000665.2:g.122285177G>T	GRCh38
NC_000003.11:g.122004024G>T , CM000665.1:g.122004024G>T	GRCh37
NC_000003.10:g.123486714G>T	NCBI36
NG_009058.1:g.106495G>T
NG_009058.2:g.106510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2992G>T	ENSP00000418685.2:p.Val998Leu
ENST00000498619.4:c.3253G>T	ENSP00000420194.1:p.Val1085Leu
ENST00000638421.1:c.3223G>T	ENSP00000492190.1:p.Val1075Leu
ENST00000639785.2:c.3223G>T MANE Select	ENSP00000491584.2:p.Val1075Leu
ENST00000490131.5:c.3223G>T	ENSP00000418685.1:p.Val1075Leu
ENST00000498619.2:c.3253G>T	ENSP00000420194.1:p.Val1085Leu
NM_000388.3:c.3223G>T	NP_000379.2:p.Val1075Leu
NM_001178065.1:c.3253G>T	NP_001171536.1:p.Val1085Leu
XM_005247836.2:c.3223G>T	XP_005247893.1:p.Val1075Leu
XM_005247837.2:c.2740G>T	XP_005247894.1:p.Val914Leu
XM_006713789.2:c.3223G>T	XP_006713852.1:p.Val1075Leu
XM_011513237.1:c.3223G>T	XP_011511539.1:p.Val1075Leu
XM_011513238.1:c.3223G>T	XP_011511540.1:p.Val1075Leu
XM_011513239.1:c.2635G>T	XP_011511541.1:p.Val879Leu
XM_006713789.3:c.3223G>T	XP_006713852.1:p.Val1075Leu
XM_017007324.1:c.3223G>T	XP_016862813.1:p.Val1075Leu
XM_017007325.1:c.3223G>T	XP_016862814.1:p.Val1075Leu
NM_000388.4:c.3223G>T MANE Select	NP_000379.3:p.Val1075Leu
NM_001178065.2:c.3253G>T	NP_001171536.2:p.Val1085Leu