Canonical Allele Identifier: CA4345310

Gene: CALCR

Linked Data

• dbSNP Id: rs775259746
• ExAC: 7:93055901 C / T
• gnomAD v2: 7-93055901-C-T
• gnomAD v4: 7-93426589-C-T
• MyVariant Identifiers: chr7:g.93055901C>T (hg19) ; chr7:g.93426589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426589C>T , CM000669.2:g.93426589C>T	GRCh38
NC_000007.13:g.93055901C>T , CM000669.1:g.93055901C>T	GRCh37
NC_000007.12:g.92893837C>T	NCBI36
NG_013005.1:g.153142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1192G>A MANE Select	ENSP00000389295.1:p.Val398Ile
ENST00000649521.1:c.1240G>A	ENSP00000497687.1:p.Val414Ile
ENST00000359558.6:c.1294G>A	ENSP00000352561.2:p.Val432Ile
ENST00000360249.8:c.*702G>A	ENSP00000353385.5:n.*702G>A
ENST00000394441.5:c.1192G>A	ENSP00000377959.1:p.Val398Ile
ENST00000415529.2:c.1242G>A	ENSP00000413179.1:n.1242G>A
ENST00000421592.5:c.1240G>A	ENSP00000399552.1:p.Val414Ile
ENST00000423724.5:c.1290G>A	ENSP00000391369.1:n.1290G>A
ENST00000426151.5:c.1192G>A	ENSP00000389295.1:p.Val398Ile
NM_001164737.1:c.1294G>A	NP_001158209.1:p.Val432Ile
NM_001164738.1:c.1192G>A	NP_001158210.1:p.Val398Ile
NM_001742.3:c.1192G>A	NP_001733.1:p.Val398Ile
NM_001164737.2:c.1240G>A	NP_001158209.2:p.Val414Ile
NM_001742.4:c.1192G>A MANE Select	NP_001733.1:p.Val398Ile
NM_001164737.3:c.1240G>A	NP_001158209.2:p.Val414Ile
NM_001164738.2:c.1192G>A	NP_001158210.1:p.Val398Ile