Canonical Allele Identifier: CA2683748749
Gene: CALCR HGNC NCBI

Linked Data

gnomAD v4: 7-93426126-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426126G>T , CM000669.2:g.93426126G>T GRCh38
NC_000007.13:g.93055438G>T , CM000669.1:g.93055438G>T GRCh37
NC_000007.12:g.92893374G>T NCBI36
NG_013005.1:g.153605C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.*230C>A MANE Select ENSP00000389295.1:n.*230C>A
ENST00000649521.1:c.*230C>A ENSP00000497687.1:n.*230C>A
ENST00000359558.6:c.*230C>A ENSP00000352561.2:n.*230C>A
ENST00000421592.5:c.*230C>A ENSP00000399552.1:n.*230C>A
NM_001164737.1:c.*230C>A NP_001158209.1:n.*230C>A
NM_001164738.1:c.*230C>A NP_001158210.1:n.*230C>A
NM_001742.3:c.*230C>A NP_001733.1:n.*230C>A
NM_001164737.2:c.*230C>A NP_001158209.2:n.*230C>A
NM_001742.4:c.*230C>A MANE Select NP_001733.1:n.*230C>A
NM_001164737.3:c.*230C>A NP_001158209.2:n.*230C>A
NM_001164738.2:c.*230C>A NP_001158210.1:n.*230C>A