Canonical Allele Identifier: CA843978896
Gene: CALCR HGNC NCBI

Linked Data

dbSNP Id: rs1390392065
gnomAD v3: 7-93426815-T-G
gnomAD v4: 7-93426815-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426815T>G , CM000669.2:g.93426815T>G GRCh38
NC_000007.13:g.93056127T>G , CM000669.1:g.93056127T>G GRCh37
NC_000007.12:g.92894063T>G NCBI36
NG_013005.1:g.152916A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1192-226A>C MANE Select ENSP00000389295.1:n.1192-226A>C
ENST00000649521.1:c.1240-226A>C ENSP00000497687.1:n.1240-226A>C
ENST00000359558.6:c.1294-226A>C ENSP00000352561.2:n.1294-226A>C
ENST00000360249.8:c.*702-226A>C ENSP00000353385.5:n.*702-226A>C
ENST00000394441.5:c.1192-226A>C ENSP00000377959.1:n.1192-226A>C
ENST00000415529.2:c.1242-226A>C ENSP00000413179.1:n.1242-226A>C
ENST00000421592.5:c.1240-226A>C ENSP00000399552.1:n.1240-226A>C
ENST00000423724.5:c.1290-226A>C ENSP00000391369.1:n.1290-226A>C
ENST00000426151.5:c.1192-226A>C ENSP00000389295.1:n.1192-226A>C
NM_001164737.1:c.1294-226A>C NP_001158209.1:n.1294-226A>C
NM_001164738.1:c.1192-226A>C NP_001158210.1:n.1192-226A>C
NM_001742.3:c.1192-226A>C NP_001733.1:n.1192-226A>C
NM_001164737.2:c.1240-226A>C NP_001158209.2:n.1240-226A>C
NM_001742.4:c.1192-226A>C MANE Select NP_001733.1:n.1192-226A>C
NM_001164737.3:c.1240-226A>C NP_001158209.2:n.1240-226A>C
NM_001164738.2:c.1192-226A>C NP_001158210.1:n.1192-226A>C