Canonical Allele Identifier: CA2569573

Gene: CASR

Linked Data

• ClinVar Variation Id: 342798
• ClinVar RCV Id: RCV000270421 ; RCV000276416 ; RCV000333822 ; RCV001309597 ; RCV000362753 ; RCV004021877
• dbSNP Id: rs548403340
• ExAC: 3:121980890 G / C
• gnomAD v2: 3-121980890-G-C
• gnomAD v3: 3-122262043-G-C
• gnomAD v4: 3-122262043-G-C
• MyVariant Identifiers: chr3:g.121980890G>C (hg19) ; chr3:g.122262043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262043G>C , CM000665.2:g.122262043G>C	GRCh38
NC_000003.11:g.121980890G>C , CM000665.1:g.121980890G>C	GRCh37
NC_000003.10:g.123463580G>C	NCBI36
NG_009058.1:g.83361G>C
NG_009058.2:g.83376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1008G>C	ENSP00000418685.2:p.Lys336Asn
ENST00000498619.4:c.1008G>C	ENSP00000420194.1:p.Lys336Asn
ENST00000638421.1:c.1008G>C	ENSP00000492190.1:p.Lys336Asn
ENST00000639785.2:c.1008G>C MANE Select	ENSP00000491584.2:p.Lys336Asn
ENST00000490131.5:c.1008G>C	ENSP00000418685.1:p.Lys336Asn
ENST00000498619.2:c.1008G>C	ENSP00000420194.1:p.Lys336Asn
NM_000388.3:c.1008G>C	NP_000379.2:p.Lys336Asn
NM_001178065.1:c.1008G>C	NP_001171536.1:p.Lys336Asn
XM_005247836.2:c.1008G>C	XP_005247893.1:p.Lys336Asn
XM_005247837.2:c.525G>C	XP_005247894.1:p.Lys175Asn
XM_006713789.2:c.1008G>C	XP_006713852.1:p.Lys336Asn
XM_011513237.1:c.1008G>C	XP_011511539.1:p.Lys336Asn
XM_011513238.1:c.1008G>C	XP_011511540.1:p.Lys336Asn
XM_011513239.1:c.420G>C	XP_011511541.1:p.Lys140Asn
XM_006713789.3:c.1008G>C	XP_006713852.1:p.Lys336Asn
XM_017007324.1:c.1008G>C	XP_016862813.1:p.Lys336Asn
XM_017007325.1:c.1008G>C	XP_016862814.1:p.Lys336Asn
NM_000388.4:c.1008G>C MANE Select	NP_000379.3:p.Lys336Asn
NM_001178065.2:c.1008G>C	NP_001171536.2:p.Lys336Asn