Canonical Allele Identifier: CA119479
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8320
ClinVar RCV Id: RCV000008821
dbSNP Id: rs121909261

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122283997G>T , CM000665.2:g.122283997G>T GRCh38
NC_000003.11:g.122002844G>T , CM000665.1:g.122002844G>T GRCh37
NC_000003.10:g.123485534G>T NCBI36
NG_009058.1:g.105315G>T
NG_009058.2:g.105330G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1812G>T ENSP00000418685.2:p.Gln604His
ENST00000498619.4:c.2073G>T ENSP00000420194.1:p.Gln691His
ENST00000638421.1:c.2043G>T ENSP00000492190.1:p.Gln681His
ENST00000639785.2:c.2043G>T MANE Select ENSP00000491584.2:p.Gln681His
ENST00000490131.5:c.2043G>T ENSP00000418685.1:p.Gln681His
ENST00000498619.2:c.2073G>T ENSP00000420194.1:p.Gln691His
NM_000388.3:c.2043G>T NP_000379.2:p.Gln681His
NM_001178065.1:c.2073G>T NP_001171536.1:p.Gln691His
XM_005247836.2:c.2043G>T XP_005247893.1:p.Gln681His
XM_005247837.2:c.1560G>T XP_005247894.1:p.Gln520His
XM_006713789.2:c.2043G>T XP_006713852.1:p.Gln681His
XM_011513237.1:c.2043G>T XP_011511539.1:p.Gln681His
XM_011513238.1:c.2043G>T XP_011511540.1:p.Gln681His
XM_011513239.1:c.1455G>T XP_011511541.1:p.Gln485His
XM_006713789.3:c.2043G>T XP_006713852.1:p.Gln681His
XM_017007324.1:c.2043G>T XP_016862813.1:p.Gln681His
XM_017007325.1:c.2043G>T XP_016862814.1:p.Gln681His
NM_000388.4:c.2043G>T MANE Select NP_000379.3:p.Gln681His
NM_001178065.2:c.2073G>T NP_001171536.2:p.Gln691His