Canonical Allele Identifier: CA2569740

Gene: CASR

Linked Data

• ClinVar Variation Id: 257606
• ClinVar RCV Id: RCV000249281 ; RCV000265913 ; RCV000271263 ; RCV000310035 ; RCV000357824 ; RCV000549471
• dbSNP Id: rs190731787
• ExAC: 3:122002525 A / G
• gnomAD v2: 3-122002525-A-G
• gnomAD v3: 3-122283678-A-G
• gnomAD v4: 3-122283678-A-G
• MyVariant Identifiers: chr3:g.122002525A>G (hg19) ; chr3:g.122283678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283678A>G , CM000665.2:g.122283678A>G	GRCh38
NC_000003.11:g.122002525A>G , CM000665.1:g.122002525A>G	GRCh37
NC_000003.10:g.123485215A>G	NCBI36
NG_009058.1:g.104996A>G
NG_009058.2:g.105011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1502-9A>G	ENSP00000418685.2:n.1502-9A>G
ENST00000498619.4:c.1763-9A>G	ENSP00000420194.1:n.1763-9A>G
ENST00000638421.1:c.1733-9A>G	ENSP00000492190.1:n.1733-9A>G
ENST00000639785.2:c.1733-9A>G MANE Select	ENSP00000491584.2:n.1733-9A>G
ENST00000490131.5:c.1733-9A>G	ENSP00000418685.1:n.1733-9A>G
ENST00000498619.2:c.1763-9A>G	ENSP00000420194.1:n.1763-9A>G
NM_000388.3:c.1733-9A>G	NP_000379.2:n.1733-9A>G
NM_001178065.1:c.1763-9A>G	NP_001171536.1:n.1763-9A>G
XM_005247836.2:c.1733-9A>G	XP_005247893.1:n.1733-9A>G
XM_005247837.2:c.1250-9A>G	XP_005247894.1:n.1250-9A>G
XM_006713789.2:c.1733-9A>G	XP_006713852.1:n.1733-9A>G
XM_011513237.1:c.1733-9A>G	XP_011511539.1:n.1733-9A>G
XM_011513238.1:c.1733-9A>G	XP_011511540.1:n.1733-9A>G
XM_011513239.1:c.1145-9A>G	XP_011511541.1:n.1145-9A>G
XM_006713789.3:c.1733-9A>G	XP_006713852.1:n.1733-9A>G
XM_017007324.1:c.1733-9A>G	XP_016862813.1:n.1733-9A>G
XM_017007325.1:c.1733-9A>G	XP_016862814.1:n.1733-9A>G
NM_000388.4:c.1733-9A>G MANE Select	NP_000379.3:n.1733-9A>G
NM_001178065.2:c.1763-9A>G	NP_001171536.2:n.1763-9A>G