Canonical Allele Identifier: CA368214578

Gene: CALCR

Linked Data

• dbSNP Id: rs1384027930
• gnomAD v3: 7-93426499-C-T
• gnomAD v4: 7-93426499-C-T
• COSMIC: COSM3374698 ; COSM3374699
• MyVariant Identifiers: chr7:g.93055811C>T (hg19) ; chr7:g.93426499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426499C>T , CM000669.2:g.93426499C>T	GRCh38
NC_000007.13:g.93055811C>T , CM000669.1:g.93055811C>T	GRCh37
NC_000007.12:g.92893747C>T	NCBI36
NG_013005.1:g.153232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1282G>A MANE Select	ENSP00000389295.1:p.Ala428Thr
ENST00000649521.1:c.1330G>A	ENSP00000497687.1:p.Ala444Thr
ENST00000359558.6:c.1384G>A	ENSP00000352561.2:p.Ala462Thr
ENST00000360249.8:c.*792G>A	ENSP00000353385.5:n.*792G>A
ENST00000394441.5:c.1282G>A	ENSP00000377959.1:p.Ala428Thr
ENST00000415529.2:c.1332G>A	ENSP00000413179.1:n.1332G>A
ENST00000421592.5:c.1330G>A	ENSP00000399552.1:p.Ala444Thr
ENST00000423724.5:c.1380G>A	ENSP00000391369.1:n.1380G>A
ENST00000426151.5:c.1282G>A	ENSP00000389295.1:p.Ala428Thr
NM_001164737.1:c.1384G>A	NP_001158209.1:p.Ala462Thr
NM_001164738.1:c.1282G>A	NP_001158210.1:p.Ala428Thr
NM_001742.3:c.1282G>A	NP_001733.1:p.Ala428Thr
NM_001164737.2:c.1330G>A	NP_001158209.2:p.Ala444Thr
NM_001742.4:c.1282G>A MANE Select	NP_001733.1:p.Ala428Thr
NM_001164737.3:c.1330G>A	NP_001158209.2:p.Ala444Thr
NM_001164738.2:c.1282G>A	NP_001158210.1:p.Ala428Thr