Canonical Allele Identifier: CA368214349

Gene: CALCR

Linked Data

• dbSNP Id: rs1223033228
• gnomAD v2: 7-93055755-C-G
• gnomAD v3: 7-93426443-C-G
• gnomAD v4: 7-93426443-C-G
• MyVariant Identifiers: chr7:g.93055755C>G (hg19) ; chr7:g.93426443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426443C>G , CM000669.2:g.93426443C>G	GRCh38
NC_000007.13:g.93055755C>G , CM000669.1:g.93055755C>G	GRCh37
NC_000007.12:g.92893691C>G	NCBI36
NG_013005.1:g.153288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1338G>C MANE Select	ENSP00000389295.1:p.Glu446Asp
ENST00000649521.1:c.1386G>C	ENSP00000497687.1:p.Glu462Asp
ENST00000359558.6:c.1440G>C	ENSP00000352561.2:p.Glu480Asp
ENST00000360249.8:c.*848G>C	ENSP00000353385.5:n.*848G>C
ENST00000394441.5:c.1338G>C	ENSP00000377959.1:p.Glu446Asp
ENST00000415529.2:c.1388G>C	ENSP00000413179.1:n.1388G>C
ENST00000421592.5:c.1386G>C	ENSP00000399552.1:p.Glu462Asp
ENST00000423724.5:c.1436G>C	ENSP00000391369.1:n.1436G>C
ENST00000426151.5:c.1338G>C	ENSP00000389295.1:p.Glu446Asp
NM_001164737.1:c.1440G>C	NP_001158209.1:p.Glu480Asp
NM_001164738.1:c.1338G>C	NP_001158210.1:p.Glu446Asp
NM_001742.3:c.1338G>C	NP_001733.1:p.Glu446Asp
NM_001164737.2:c.1386G>C	NP_001158209.2:p.Glu462Asp
NM_001742.4:c.1338G>C MANE Select	NP_001733.1:p.Glu446Asp
NM_001164737.3:c.1386G>C	NP_001158209.2:p.Glu462Asp
NM_001164738.2:c.1338G>C	NP_001158210.1:p.Glu446Asp