Canonical Allele Identifier: CA368214703
Gene: CALCR HGNC NCBI

Linked Data

gnomAD v4: 7-93426539-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426539G>T , CM000669.2:g.93426539G>T GRCh38
NC_000007.13:g.93055851G>T , CM000669.1:g.93055851G>T GRCh37
NC_000007.12:g.92893787G>T NCBI36
NG_013005.1:g.153192C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1242C>A MANE Select ENSP00000389295.1:p.Asn414Lys
ENST00000649521.1:c.1290C>A ENSP00000497687.1:p.Asn430Lys
ENST00000359558.6:c.1344C>A ENSP00000352561.2:p.Asn448Lys
ENST00000360249.8:c.*752C>A ENSP00000353385.5:n.*752C>A
ENST00000394441.5:c.1242C>A ENSP00000377959.1:p.Asn414Lys
ENST00000415529.2:c.1292C>A ENSP00000413179.1:n.1292C>A
ENST00000421592.5:c.1290C>A ENSP00000399552.1:p.Asn430Lys
ENST00000423724.5:c.1340C>A ENSP00000391369.1:n.1340C>A
ENST00000426151.5:c.1242C>A ENSP00000389295.1:p.Asn414Lys
NM_001164737.1:c.1344C>A NP_001158209.1:p.Asn448Lys
NM_001164738.1:c.1242C>A NP_001158210.1:p.Asn414Lys
NM_001742.3:c.1242C>A NP_001733.1:p.Asn414Lys
NM_001164737.2:c.1290C>A NP_001158209.2:p.Asn430Lys
NM_001742.4:c.1242C>A MANE Select NP_001733.1:p.Asn414Lys
NM_001164737.3:c.1290C>A NP_001158209.2:p.Asn430Lys
NM_001164738.2:c.1242C>A NP_001158210.1:p.Asn414Lys