Canonical Allele Identifier: CA354151272

Gene: CASR

Linked Data

• ClinVar Variation Id: 1424804
• ClinVar RCV Id: RCV001957261 ; RCV003401906
• dbSNP Id: rs1256348744
• gnomAD v2: 3-121980631-A-G
• gnomAD v4: 3-122261784-A-G
• MyVariant Identifiers: chr3:g.121980631A>G (hg19) ; chr3:g.122261784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261784A>G , CM000665.2:g.122261784A>G	GRCh38
NC_000003.11:g.121980631A>G , CM000665.1:g.121980631A>G	GRCh37
NC_000003.10:g.123463321A>G	NCBI36
NG_009058.1:g.83102A>G
NG_009058.2:g.83117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.749A>G	ENSP00000418685.2:p.Glu250Gly
ENST00000498619.4:c.749A>G	ENSP00000420194.1:p.Glu250Gly
ENST00000638421.1:c.749A>G	ENSP00000492190.1:p.Glu250Gly
ENST00000639785.2:c.749A>G MANE Select	ENSP00000491584.2:p.Glu250Gly
ENST00000490131.5:c.749A>G	ENSP00000418685.1:p.Glu250Gly
ENST00000498619.2:c.749A>G	ENSP00000420194.1:p.Glu250Gly
NM_000388.3:c.749A>G	NP_000379.2:p.Glu250Gly
NM_001178065.1:c.749A>G	NP_001171536.1:p.Glu250Gly
XM_005247836.2:c.749A>G	XP_005247893.1:p.Glu250Gly
XM_005247837.2:c.266A>G	XP_005247894.1:p.Glu89Gly
XM_006713789.2:c.749A>G	XP_006713852.1:p.Glu250Gly
XM_011513237.1:c.749A>G	XP_011511539.1:p.Glu250Gly
XM_011513238.1:c.749A>G	XP_011511540.1:p.Glu250Gly
XM_011513239.1:c.161A>G	XP_011511541.1:p.Glu54Gly
XM_006713789.3:c.749A>G	XP_006713852.1:p.Glu250Gly
XM_017007324.1:c.749A>G	XP_016862813.1:p.Glu250Gly
XM_017007325.1:c.749A>G	XP_016862814.1:p.Glu250Gly
NM_000388.4:c.749A>G MANE Select	NP_000379.3:p.Glu250Gly
NM_001178065.2:c.749A>G	NP_001171536.2:p.Glu250Gly