Canonical Allele Identifier: CA2569454
Gene: CASR HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.122257171G>A
GRCh37 chr3:g.121976018G>A
gnomAD v2:
3:121976018 G / A
gnomAD v3:
3:122257171 G / A
gnomAD v4:
chr3-122257171-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000865186
RCV004027645
ClinVar Variation:
698012
dbSNP:
201013419
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257171G>A , CM000665.2:g.122257171G>A GRCh38
NC_000003.11:g.121976018G>A , CM000665.1:g.121976018G>A GRCh37
NC_000003.10:g.123458708G>A NCBI36
NG_009058.1:g.78489G>A
NG_009058.2:g.78504G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.276G>A ENSP00000418685.2:p.Thr92=
ENST00000498619.4:c.276G>A ENSP00000420194.1:p.Thr92=
ENST00000638296.1:n.195G>A
ENST00000638421.1:c.276G>A ENSP00000492190.1:p.Thr92=
ENST00000639785.2:c.276G>A MANE Select ENSP00000491584.2:p.Thr92=
ENST00000490131.5:c.276G>A ENSP00000418685.1:p.Thr92=
ENST00000490186.1:n.135G>A
ENST00000498619.2:c.276G>A ENSP00000420194.1:p.Thr92=
NM_000388.3:c.276G>A NP_000379.2:p.Thr92=
NM_001178065.1:c.276G>A NP_001171536.1:p.Thr92=
XM_005247836.2:c.276G>A XP_005247893.1:p.Thr92=
XM_005247837.2:c.9+2797G>A XP_005247894.1:n.9+2797G>A
XM_006713789.2:c.276G>A XP_006713852.1:p.Thr92=
XM_011513237.1:c.276G>A XP_011511539.1:p.Thr92=
XM_011513238.1:c.276G>A XP_011511540.1:p.Thr92=
XM_006713789.3:c.276G>A XP_006713852.1:p.Thr92=
XM_017007324.1:c.276G>A XP_016862813.1:p.Thr92=
XM_017007325.1:c.276G>A XP_016862814.1:p.Thr92=
NM_000388.4:c.276G>A MANE Select NP_000379.3:p.Thr92=
NM_001178065.2:c.276G>A NP_001171536.2:p.Thr92=
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