Canonical Allele Identifier: CA2569400

Gene: CASR

Linked Data

• ClinVar Variation Id: 431803
• ClinVar RCV Id: RCV000497412 ; RCV001144835 ; RCV001144836 ; RCV001146801 ; RCV001144834
• dbSNP Id: rs753659949
• ExAC: 3:121973027 C / T
• gnomAD v2: 3-121973027-C-T
• gnomAD v3: 3-122254180-C-T
• gnomAD v4: 3-122254180-C-T
• MyVariant Identifiers: chr3:g.121973027C>T (hg19) ; chr3:g.122254180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254180C>T , CM000665.2:g.122254180C>T	GRCh38
NC_000003.11:g.121973027C>T , CM000665.1:g.121973027C>T	GRCh37
NC_000003.10:g.123455717C>T	NCBI36
NG_009058.1:g.75498C>T
NG_009058.2:g.75513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.-10C>T	ENSP00000418685.2:n.-10C>T
ENST00000498619.4:c.-10C>T	ENSP00000420194.1:n.-10C>T
ENST00000638421.1:c.-10C>T	ENSP00000492190.1:n.-10C>T
ENST00000639785.2:c.-10C>T MANE Select	ENSP00000491584.2:n.-10C>T
ENST00000490131.5:c.-10C>T	ENSP00000418685.1:n.-10C>T
ENST00000498619.2:c.-10C>T	ENSP00000420194.1:n.-10C>T
NM_000388.3:c.-10C>T	NP_000379.2:n.-10C>T
NM_001178065.1:c.-10C>T	NP_001171536.1:n.-10C>T
XM_005247836.2:c.-10C>T	XP_005247893.1:n.-10C>T
XM_006713789.2:c.-10C>T	XP_006713852.1:n.-10C>T
XM_011513237.1:c.-10C>T	XP_011511539.1:n.-10C>T
XM_011513238.1:c.-10C>T	XP_011511540.1:n.-10C>T
XM_006713789.3:c.-10C>T	XP_006713852.1:n.-10C>T
XM_017007324.1:c.-10C>T	XP_016862813.1:n.-10C>T
XM_017007325.1:c.-10C>T	XP_016862814.1:n.-10C>T
NM_000388.4:c.-10C>T MANE Select	NP_000379.3:n.-10C>T
NM_001178065.2:c.-10C>T	NP_001171536.2:n.-10C>T