Canonical Allele Identifier: CA354161457

Gene: CASR

Linked Data

• ClinVar Variation Id: 1374045
• ClinVar RCV Id: RCV001877627
• dbSNP Id: rs764032437
• gnomAD v4: 3-122285066-G-T
• MyVariant Identifiers: chr3:g.122003913G>T (hg19) ; chr3:g.122285066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285066G>T , CM000665.2:g.122285066G>T	GRCh38
NC_000003.11:g.122003913G>T , CM000665.1:g.122003913G>T	GRCh37
NC_000003.10:g.123486603G>T	NCBI36
NG_009058.1:g.106384G>T
NG_009058.2:g.106399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2881G>T	ENSP00000418685.2:p.Gly961Ter
ENST00000498619.4:c.3142G>T	ENSP00000420194.1:p.Gly1048Ter
ENST00000638421.1:c.3112G>T	ENSP00000492190.1:p.Gly1038Ter
ENST00000639785.2:c.3112G>T MANE Select	ENSP00000491584.2:p.Gly1038Ter
ENST00000490131.5:c.3112G>T	ENSP00000418685.1:p.Gly1038Ter
ENST00000498619.2:c.3142G>T	ENSP00000420194.1:p.Gly1048Ter
NM_000388.3:c.3112G>T	NP_000379.2:p.Gly1038Ter
NM_001178065.1:c.3142G>T	NP_001171536.1:p.Gly1048Ter
XM_005247836.2:c.3112G>T	XP_005247893.1:p.Gly1038Ter
XM_005247837.2:c.2629G>T	XP_005247894.1:p.Gly877Ter
XM_006713789.2:c.3112G>T	XP_006713852.1:p.Gly1038Ter
XM_011513237.1:c.3112G>T	XP_011511539.1:p.Gly1038Ter
XM_011513238.1:c.3112G>T	XP_011511540.1:p.Gly1038Ter
XM_011513239.1:c.2524G>T	XP_011511541.1:p.Gly842Ter
XM_006713789.3:c.3112G>T	XP_006713852.1:p.Gly1038Ter
XM_017007324.1:c.3112G>T	XP_016862813.1:p.Gly1038Ter
XM_017007325.1:c.3112G>T	XP_016862814.1:p.Gly1038Ter
NM_000388.4:c.3112G>T MANE Select	NP_000379.3:p.Gly1038Ter
NM_001178065.2:c.3142G>T	NP_001171536.2:p.Gly1048Ter