Canonical Allele Identifier: CA2569567

Gene: CASR

Linked Data

• ClinVar Variation Id: 532628
• ClinVar RCV Id: RCV000639478 ; RCV004025566
• dbSNP Id: rs753011255
• ExAC: 3:121980842 C / T
• gnomAD v2: 3-121980842-C-T
• gnomAD v3: 3-122261995-C-T
• gnomAD v4: 3-122261995-C-T
• COSMIC: COSM445410
• MyVariant Identifiers: chr3:g.121980842C>T (hg19) ; chr3:g.122261995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261995C>T , CM000665.2:g.122261995C>T	GRCh38
NC_000003.11:g.121980842C>T , CM000665.1:g.121980842C>T	GRCh37
NC_000003.10:g.123463532C>T	NCBI36
NG_009058.1:g.83313C>T
NG_009058.2:g.83328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.960C>T	ENSP00000418685.2:p.Phe320=
ENST00000498619.4:c.960C>T	ENSP00000420194.1:p.Phe320=
ENST00000638421.1:c.960C>T	ENSP00000492190.1:p.Phe320=
ENST00000639785.2:c.960C>T MANE Select	ENSP00000491584.2:p.Phe320=
ENST00000490131.5:c.960C>T	ENSP00000418685.1:p.Phe320=
ENST00000498619.2:c.960C>T	ENSP00000420194.1:p.Phe320=
NM_000388.3:c.960C>T	NP_000379.2:p.Phe320=
NM_001178065.1:c.960C>T	NP_001171536.1:p.Phe320=
XM_005247836.2:c.960C>T	XP_005247893.1:p.Phe320=
XM_005247837.2:c.477C>T	XP_005247894.1:p.Phe159=
XM_006713789.2:c.960C>T	XP_006713852.1:p.Phe320=
XM_011513237.1:c.960C>T	XP_011511539.1:p.Phe320=
XM_011513238.1:c.960C>T	XP_011511540.1:p.Phe320=
XM_011513239.1:c.372C>T	XP_011511541.1:p.Phe124=
XM_006713789.3:c.960C>T	XP_006713852.1:p.Phe320=
XM_017007324.1:c.960C>T	XP_016862813.1:p.Phe320=
XM_017007325.1:c.960C>T	XP_016862814.1:p.Phe320=
NM_000388.4:c.960C>T MANE Select	NP_000379.3:p.Phe320=
NM_001178065.2:c.960C>T	NP_001171536.2:p.Phe320=