Canonical Allele Identifier: CA2569749

Gene: CASR

Linked Data

• ClinVar Variation Id: 410343
• ClinVar RCV Id: RCV000465141 ; RCV004022770
• dbSNP Id: rs759904153
• ExAC: 3:122002627 C / T
• gnomAD v2: 3-122002627-C-T
• gnomAD v3: 3-122283780-C-T
• gnomAD v4: 3-122283780-C-T
• MyVariant Identifiers: chr3:g.122002627C>T (hg19) ; chr3:g.122283780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283780C>T , CM000665.2:g.122283780C>T	GRCh38
NC_000003.11:g.122002627C>T , CM000665.1:g.122002627C>T	GRCh37
NC_000003.10:g.123485317C>T	NCBI36
NG_009058.1:g.105098C>T
NG_009058.2:g.105113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1595C>T	ENSP00000418685.2:p.Thr532Met
ENST00000498619.4:c.1856C>T	ENSP00000420194.1:p.Thr619Met
ENST00000638421.1:c.1826C>T	ENSP00000492190.1:p.Thr609Met
ENST00000639785.2:c.1826C>T MANE Select	ENSP00000491584.2:p.Thr609Met
ENST00000490131.5:c.1826C>T	ENSP00000418685.1:p.Thr609Met
ENST00000498619.2:c.1856C>T	ENSP00000420194.1:p.Thr619Met
NM_000388.3:c.1826C>T	NP_000379.2:p.Thr609Met
NM_001178065.1:c.1856C>T	NP_001171536.1:p.Thr619Met
XM_005247836.2:c.1826C>T	XP_005247893.1:p.Thr609Met
XM_005247837.2:c.1343C>T	XP_005247894.1:p.Thr448Met
XM_006713789.2:c.1826C>T	XP_006713852.1:p.Thr609Met
XM_011513237.1:c.1826C>T	XP_011511539.1:p.Thr609Met
XM_011513238.1:c.1826C>T	XP_011511540.1:p.Thr609Met
XM_011513239.1:c.1238C>T	XP_011511541.1:p.Thr413Met
XM_006713789.3:c.1826C>T	XP_006713852.1:p.Thr609Met
XM_017007324.1:c.1826C>T	XP_016862813.1:p.Thr609Met
XM_017007325.1:c.1826C>T	XP_016862814.1:p.Thr609Met
NM_000388.4:c.1826C>T MANE Select	NP_000379.3:p.Thr609Met
NM_001178065.2:c.1856C>T	NP_001171536.2:p.Thr619Met