Canonical Allele Identifier: CA2569923

Gene: CASR

Linked Data

• ClinVar Variation Id: 939485
• ClinVar RCV Id: RCV001208896
• dbSNP Id: rs755151413
• ExAC: 3:122003848 T / C
• gnomAD v2: 3-122003848-T-C
• gnomAD v4: 3-122285001-T-C
• MyVariant Identifiers: chr3:g.122003848T>C (hg19) ; chr3:g.122285001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285001T>C , CM000665.2:g.122285001T>C	GRCh38
NC_000003.11:g.122003848T>C , CM000665.1:g.122003848T>C	GRCh37
NC_000003.10:g.123486538T>C	NCBI36
NG_009058.1:g.106319T>C
NG_009058.2:g.106334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2816T>C	ENSP00000418685.2:p.Leu939Pro
ENST00000498619.4:c.3077T>C	ENSP00000420194.1:p.Leu1026Pro
ENST00000638421.1:c.3047T>C	ENSP00000492190.1:p.Leu1016Pro
ENST00000639785.2:c.3047T>C MANE Select	ENSP00000491584.2:p.Leu1016Pro
ENST00000490131.5:c.3047T>C	ENSP00000418685.1:p.Leu1016Pro
ENST00000498619.2:c.3077T>C	ENSP00000420194.1:p.Leu1026Pro
NM_000388.3:c.3047T>C	NP_000379.2:p.Leu1016Pro
NM_001178065.1:c.3077T>C	NP_001171536.1:p.Leu1026Pro
XM_005247836.2:c.3047T>C	XP_005247893.1:p.Leu1016Pro
XM_005247837.2:c.2564T>C	XP_005247894.1:p.Leu855Pro
XM_006713789.2:c.3047T>C	XP_006713852.1:p.Leu1016Pro
XM_011513237.1:c.3047T>C	XP_011511539.1:p.Leu1016Pro
XM_011513238.1:c.3047T>C	XP_011511540.1:p.Leu1016Pro
XM_011513239.1:c.2459T>C	XP_011511541.1:p.Leu820Pro
XM_006713789.3:c.3047T>C	XP_006713852.1:p.Leu1016Pro
XM_017007324.1:c.3047T>C	XP_016862813.1:p.Leu1016Pro
XM_017007325.1:c.3047T>C	XP_016862814.1:p.Leu1016Pro
NM_000388.4:c.3047T>C MANE Select	NP_000379.3:p.Leu1016Pro
NM_001178065.2:c.3077T>C	NP_001171536.2:p.Leu1026Pro