Canonical Allele Identifier: CA368214452
Gene: CALCR HGNC NCBI

Linked Data

gnomAD v4: 7-93426462-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426462A>C , CM000669.2:g.93426462A>C GRCh38
NC_000007.13:g.93055774A>C , CM000669.1:g.93055774A>C GRCh37
NC_000007.12:g.92893710A>C NCBI36
NG_013005.1:g.153269T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1319T>G MANE Select ENSP00000389295.1:p.Ile440Ser
ENST00000649521.1:c.1367T>G ENSP00000497687.1:p.Ile456Ser
ENST00000359558.6:c.1421T>G ENSP00000352561.2:p.Ile474Ser
ENST00000360249.8:c.*829T>G ENSP00000353385.5:n.*829T>G
ENST00000394441.5:c.1319T>G ENSP00000377959.1:p.Ile440Ser
ENST00000415529.2:c.1369T>G ENSP00000413179.1:n.1369T>G
ENST00000421592.5:c.1367T>G ENSP00000399552.1:p.Ile456Ser
ENST00000423724.5:c.1417T>G ENSP00000391369.1:n.1417T>G
ENST00000426151.5:c.1319T>G ENSP00000389295.1:p.Ile440Ser
NM_001164737.1:c.1421T>G NP_001158209.1:p.Ile474Ser
NM_001164738.1:c.1319T>G NP_001158210.1:p.Ile440Ser
NM_001742.3:c.1319T>G NP_001733.1:p.Ile440Ser
NM_001164737.2:c.1367T>G NP_001158209.2:p.Ile456Ser
NM_001742.4:c.1319T>G MANE Select NP_001733.1:p.Ile440Ser
NM_001164737.3:c.1367T>G NP_001158209.2:p.Ile456Ser
NM_001164738.2:c.1319T>G NP_001158210.1:p.Ile440Ser