Canonical Allele Identifier: CA843977842
Gene: CALCR HGNC NCBI

Linked Data

dbSNP Id: rs1483952441
gnomAD v3: 7-93426039-G-A
gnomAD v4: 7-93426039-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426039G>A , CM000669.2:g.93426039G>A GRCh38
NC_000007.13:g.93055351G>A , CM000669.1:g.93055351G>A GRCh37
NC_000007.12:g.92893287G>A NCBI36
NG_013005.1:g.153692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.*317C>T MANE Select ENSP00000389295.1:n.*317C>T
ENST00000649521.1:c.*317C>T ENSP00000497687.1:n.*317C>T
ENST00000359558.6:c.*317C>T ENSP00000352561.2:n.*317C>T
ENST00000421592.5:c.*317C>T ENSP00000399552.1:n.*317C>T
NM_001164737.1:c.*317C>T NP_001158209.1:n.*317C>T
NM_001164738.1:c.*317C>T NP_001158210.1:n.*317C>T
NM_001742.3:c.*317C>T NP_001733.1:n.*317C>T
NM_001164737.2:c.*317C>T NP_001158209.2:n.*317C>T
NM_001742.4:c.*317C>T MANE Select NP_001733.1:n.*317C>T
NM_001164737.3:c.*317C>T NP_001158209.2:n.*317C>T
NM_001164738.2:c.*317C>T NP_001158210.1:n.*317C>T