Canonical Allele Identifier: CA368214068
Gene: CALCR HGNC NCBI

Linked Data

dbSNP Id: rs751608659
gnomAD v2: 7-93055696-T-A
gnomAD v4: 7-93426384-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426384T>A , CM000669.2:g.93426384T>A GRCh38
NC_000007.13:g.93055696T>A , CM000669.1:g.93055696T>A GRCh37
NC_000007.12:g.92893632T>A NCBI36
NG_013005.1:g.153347A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1397A>T MANE Select ENSP00000389295.1:p.Asn466Ile
ENST00000649521.1:c.1445A>T ENSP00000497687.1:p.Asn482Ile
ENST00000359558.6:c.1499A>T ENSP00000352561.2:p.Asn500Ile
ENST00000360249.8:c.*907A>T ENSP00000353385.5:n.*907A>T
ENST00000394441.5:c.1397A>T ENSP00000377959.1:p.Asn466Ile
ENST00000415529.2:c.1447A>T ENSP00000413179.1:n.1447A>T
ENST00000421592.5:c.1445A>T ENSP00000399552.1:p.Asn482Ile
ENST00000423724.5:c.1495A>T ENSP00000391369.1:n.1495A>T
ENST00000426151.5:c.1397A>T ENSP00000389295.1:p.Asn466Ile
NM_001164737.1:c.1499A>T NP_001158209.1:p.Asn500Ile
NM_001164738.1:c.1397A>T NP_001158210.1:p.Asn466Ile
NM_001742.3:c.1397A>T NP_001733.1:p.Asn466Ile
NM_001164737.2:c.1445A>T NP_001158209.2:p.Asn482Ile
NM_001742.4:c.1397A>T MANE Select NP_001733.1:p.Asn466Ile
NM_001164737.3:c.1445A>T NP_001158209.2:p.Asn482Ile
NM_001164738.2:c.1397A>T NP_001158210.1:p.Asn466Ile