Canonical Allele Identifier: CA456486038
Gene: CALCR HGNC NCBI

Linked Data

dbSNP Id: rs1390708209
gnomAD v3: 7-93426491-G-A
gnomAD v4: 7-93426491-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426491G>A , CM000669.2:g.93426491G>A GRCh38
NC_000007.13:g.93055803G>A , CM000669.1:g.93055803G>A GRCh37
NC_000007.12:g.92893739G>A NCBI36
NG_013005.1:g.153240C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1290C>T MANE Select ENSP00000389295.1:p.Ala430=
ENST00000649521.1:c.1338C>T ENSP00000497687.1:p.Ala446=
ENST00000359558.6:c.1392C>T ENSP00000352561.2:p.Ala464=
ENST00000360249.8:c.*800C>T ENSP00000353385.5:n.*800C>T
ENST00000394441.5:c.1290C>T ENSP00000377959.1:p.Ala430=
ENST00000415529.2:c.1340C>T ENSP00000413179.1:n.1340C>T
ENST00000421592.5:c.1338C>T ENSP00000399552.1:p.Ala446=
ENST00000423724.5:c.1388C>T ENSP00000391369.1:n.1388C>T
ENST00000426151.5:c.1290C>T ENSP00000389295.1:p.Ala430=
NM_001164737.1:c.1392C>T NP_001158209.1:p.Ala464=
NM_001164738.1:c.1290C>T NP_001158210.1:p.Ala430=
NM_001742.3:c.1290C>T NP_001733.1:p.Ala430=
NM_001164737.2:c.1338C>T NP_001158209.2:p.Ala446=
NM_001742.4:c.1290C>T MANE Select NP_001733.1:p.Ala430=
NM_001164737.3:c.1338C>T NP_001158209.2:p.Ala446=
NM_001164738.2:c.1290C>T NP_001158210.1:p.Ala430=