Canonical Allele Identifier: CA456486067
Gene: CALCR HGNC NCBI

Linked Data

dbSNP Id: rs1562922501
gnomAD v4: 7-93426512-G-A
MyVariant Identifiers: chr7:g.93055824G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426512G>A , CM000669.2:g.93426512G>A GRCh38
NC_000007.13:g.93055824G>A , CM000669.1:g.93055824G>A GRCh37
NC_000007.12:g.92893760G>A NCBI36
NG_013005.1:g.153219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1269C>T MANE Select ENSP00000389295.1:p.Asn423=
ENST00000649521.1:c.1317C>T ENSP00000497687.1:p.Asn439=
ENST00000359558.6:c.1371C>T ENSP00000352561.2:p.Asn457=
ENST00000360249.8:c.*779C>T ENSP00000353385.5:n.*779C>T
ENST00000394441.5:c.1269C>T ENSP00000377959.1:p.Asn423=
ENST00000415529.2:c.1319C>T ENSP00000413179.1:n.1319C>T
ENST00000421592.5:c.1317C>T ENSP00000399552.1:p.Asn439=
ENST00000423724.5:c.1367C>T ENSP00000391369.1:n.1367C>T
ENST00000426151.5:c.1269C>T ENSP00000389295.1:p.Asn423=
NM_001164737.1:c.1371C>T NP_001158209.1:p.Asn457=
NM_001164738.1:c.1269C>T NP_001158210.1:p.Asn423=
NM_001742.3:c.1269C>T NP_001733.1:p.Asn423=
NM_001164737.2:c.1317C>T NP_001158209.2:p.Asn439=
NM_001742.4:c.1269C>T MANE Select NP_001733.1:p.Asn423=
NM_001164737.3:c.1317C>T NP_001158209.2:p.Asn439=
NM_001164738.2:c.1269C>T NP_001158210.1:p.Asn423=