Canonical Allele Identifier: CA4345293

Gene: CALCR

Linked Data

• dbSNP Id: rs775626313
• ExAC: 7:93055840 C / T
• gnomAD v2: 7-93055840-C-T
• gnomAD v3: 7-93426528-C-T
• gnomAD v4: 7-93426528-C-T
• MyVariant Identifiers: chr7:g.93055840C>T (hg19) ; chr7:g.93426528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426528C>T , CM000669.2:g.93426528C>T	GRCh38
NC_000007.13:g.93055840C>T , CM000669.1:g.93055840C>T	GRCh37
NC_000007.12:g.92893776C>T	NCBI36
NG_013005.1:g.153203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1253G>A MANE Select	ENSP00000389295.1:p.Gly418Glu
ENST00000649521.1:c.1301G>A	ENSP00000497687.1:p.Gly434Glu
ENST00000359558.6:c.1355G>A	ENSP00000352561.2:p.Gly452Glu
ENST00000360249.8:c.*763G>A	ENSP00000353385.5:n.*763G>A
ENST00000394441.5:c.1253G>A	ENSP00000377959.1:p.Gly418Glu
ENST00000415529.2:c.1303G>A	ENSP00000413179.1:n.1303G>A
ENST00000421592.5:c.1301G>A	ENSP00000399552.1:p.Gly434Glu
ENST00000423724.5:c.1351G>A	ENSP00000391369.1:n.1351G>A
ENST00000426151.5:c.1253G>A	ENSP00000389295.1:p.Gly418Glu
NM_001164737.1:c.1355G>A	NP_001158209.1:p.Gly452Glu
NM_001164738.1:c.1253G>A	NP_001158210.1:p.Gly418Glu
NM_001742.3:c.1253G>A	NP_001733.1:p.Gly418Glu
NM_001164737.2:c.1301G>A	NP_001158209.2:p.Gly434Glu
NM_001742.4:c.1253G>A MANE Select	NP_001733.1:p.Gly418Glu
NM_001164737.3:c.1301G>A	NP_001158209.2:p.Gly434Glu
NM_001164738.2:c.1253G>A	NP_001158210.1:p.Gly418Glu