Canonical Allele Identifier: CA82749519

Gene: CASR

Linked Data

• ClinVar Variation Id: 1358593
• ClinVar RCV Id: RCV001864120 ; RCV004039658
• dbSNP Id: rs759009566
• gnomAD v2: 3-122003863-C-G
• gnomAD v3: 3-122285016-C-G
• gnomAD v4: 3-122285016-C-G
• MyVariant Identifiers: chr3:g.122003863C>G (hg19) ; chr3:g.122285016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285016C>G , CM000665.2:g.122285016C>G	GRCh38
NC_000003.11:g.122003863C>G , CM000665.1:g.122003863C>G	GRCh37
NC_000003.10:g.123486553C>G	NCBI36
NG_009058.1:g.106334C>G
NG_009058.2:g.106349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2831C>G	ENSP00000418685.2:p.Thr944Arg
ENST00000498619.4:c.3092C>G	ENSP00000420194.1:p.Thr1031Arg
ENST00000638421.1:c.3062C>G	ENSP00000492190.1:p.Thr1021Arg
ENST00000639785.2:c.3062C>G MANE Select	ENSP00000491584.2:p.Thr1021Arg
ENST00000490131.5:c.3062C>G	ENSP00000418685.1:p.Thr1021Arg
ENST00000498619.2:c.3092C>G	ENSP00000420194.1:p.Thr1031Arg
NM_000388.3:c.3062C>G	NP_000379.2:p.Thr1021Arg
NM_001178065.1:c.3092C>G	NP_001171536.1:p.Thr1031Arg
XM_005247836.2:c.3062C>G	XP_005247893.1:p.Thr1021Arg
XM_005247837.2:c.2579C>G	XP_005247894.1:p.Thr860Arg
XM_006713789.2:c.3062C>G	XP_006713852.1:p.Thr1021Arg
XM_011513237.1:c.3062C>G	XP_011511539.1:p.Thr1021Arg
XM_011513238.1:c.3062C>G	XP_011511540.1:p.Thr1021Arg
XM_011513239.1:c.2474C>G	XP_011511541.1:p.Thr825Arg
XM_006713789.3:c.3062C>G	XP_006713852.1:p.Thr1021Arg
XM_017007324.1:c.3062C>G	XP_016862813.1:p.Thr1021Arg
XM_017007325.1:c.3062C>G	XP_016862814.1:p.Thr1021Arg
NM_000388.4:c.3062C>G MANE Select	NP_000379.3:p.Thr1021Arg
NM_001178065.2:c.3092C>G	NP_001171536.2:p.Thr1031Arg