Canonical Allele Identifier: CA213593

Gene: CASR

Linked Data

• ClinVar Variation Id: 35795
• ClinVar RCV Id: RCV000029447 ; RCV001215841 ; RCV003387729 ; RCV004018680
• dbSNP Id: rs193922439
• ExAC: 3:121976011 A / C
• gnomAD v2: 3-121976011-A-C
• gnomAD v3: 3-122257164-A-C
• gnomAD v4: 3-122257164-A-C
• MyVariant Identifiers: chr3:g.121976011A>C (hg19) ; chr3:g.122257164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257164A>C , CM000665.2:g.122257164A>C	GRCh38
NC_000003.11:g.121976011A>C , CM000665.1:g.121976011A>C	GRCh37
NC_000003.10:g.123458701A>C	NCBI36
NG_009058.1:g.78482A>C
NG_009058.2:g.78497A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.269A>C	ENSP00000418685.2:p.Asn90Thr
ENST00000498619.4:c.269A>C	ENSP00000420194.1:p.Asn90Thr
ENST00000638296.1:n.188A>C
ENST00000638421.1:c.269A>C	ENSP00000492190.1:p.Asn90Thr
ENST00000639785.2:c.269A>C MANE Select	ENSP00000491584.2:p.Asn90Thr
ENST00000490131.5:c.269A>C	ENSP00000418685.1:p.Asn90Thr
ENST00000490186.1:n.128A>C
ENST00000498619.2:c.269A>C	ENSP00000420194.1:p.Asn90Thr
NM_000388.3:c.269A>C	NP_000379.2:p.Asn90Thr
NM_001178065.1:c.269A>C	NP_001171536.1:p.Asn90Thr
XM_005247836.2:c.269A>C	XP_005247893.1:p.Asn90Thr
XM_005247837.2:c.9+2790A>C	XP_005247894.1:n.9+2790A>C
XM_006713789.2:c.269A>C	XP_006713852.1:p.Asn90Thr
XM_011513237.1:c.269A>C	XP_011511539.1:p.Asn90Thr
XM_011513238.1:c.269A>C	XP_011511540.1:p.Asn90Thr
XM_006713789.3:c.269A>C	XP_006713852.1:p.Asn90Thr
XM_017007324.1:c.269A>C	XP_016862813.1:p.Asn90Thr
XM_017007325.1:c.269A>C	XP_016862814.1:p.Asn90Thr
NM_000388.4:c.269A>C MANE Select	NP_000379.3:p.Asn90Thr
NM_001178065.2:c.269A>C	NP_001171536.2:p.Asn90Thr