Canonical Allele Identifier: CA4345279

Gene: CALCR

Linked Data

• dbSNP Id: rs139271936
• ExAC: 7:93055793 C / A
• gnomAD v2: 7-93055793-C-A
• gnomAD v3: 7-93426481-C-A
• gnomAD v4: 7-93426481-C-A
• MyVariant Identifiers: chr7:g.93055793C>A (hg19) ; chr7:g.93426481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426481C>A , CM000669.2:g.93426481C>A	GRCh38
NC_000007.13:g.93055793C>A , CM000669.1:g.93055793C>A	GRCh37
NC_000007.12:g.92893729C>A	NCBI36
NG_013005.1:g.153250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1300G>T MANE Select	ENSP00000389295.1:p.Glu434Ter
ENST00000649521.1:c.1348G>T	ENSP00000497687.1:p.Glu450Ter
ENST00000359558.6:c.1402G>T	ENSP00000352561.2:p.Glu468Ter
ENST00000360249.8:c.*810G>T	ENSP00000353385.5:n.*810G>T
ENST00000394441.5:c.1300G>T	ENSP00000377959.1:p.Glu434Ter
ENST00000415529.2:c.1350G>T	ENSP00000413179.1:n.1350G>T
ENST00000421592.5:c.1348G>T	ENSP00000399552.1:p.Glu450Ter
ENST00000423724.5:c.1398G>T	ENSP00000391369.1:n.1398G>T
ENST00000426151.5:c.1300G>T	ENSP00000389295.1:p.Glu434Ter
NM_001164737.1:c.1402G>T	NP_001158209.1:p.Glu468Ter
NM_001164738.1:c.1300G>T	NP_001158210.1:p.Glu434Ter
NM_001742.3:c.1300G>T	NP_001733.1:p.Glu434Ter
NM_001164737.2:c.1348G>T	NP_001158209.2:p.Glu450Ter
NM_001742.4:c.1300G>T MANE Select	NP_001733.1:p.Glu434Ter
NM_001164737.3:c.1348G>T	NP_001158209.2:p.Glu450Ter
NM_001164738.2:c.1300G>T	NP_001158210.1:p.Glu434Ter