Canonical Allele Identifier: CA456486032

Gene: CALCR

Linked Data

• dbSNP Id: rs1326581790
• gnomAD v2: 7-93055800-A-G
• gnomAD v3: 7-93426488-A-G
• gnomAD v4: 7-93426488-A-G
• MyVariant Identifiers: chr7:g.93055800A>G (hg19) ; chr7:g.93055800_93055803delinsGGCG (hg19) ; chr7:g.93426488A>G (hg38) ; chr7:g.93426488_93426491delinsGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426488A>G , CM000669.2:g.93426488A>G	GRCh38
NC_000007.13:g.93055800A>G , CM000669.1:g.93055800A>G	GRCh37
NC_000007.12:g.92893736A>G	NCBI36
NG_013005.1:g.153243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1293T>C MANE Select	ENSP00000389295.1:p.Ala431=
ENST00000649521.1:c.1341T>C	ENSP00000497687.1:p.Ala447=
ENST00000359558.6:c.1395T>C	ENSP00000352561.2:p.Ala465=
ENST00000360249.8:c.*803T>C	ENSP00000353385.5:n.*803T>C
ENST00000394441.5:c.1293T>C	ENSP00000377959.1:p.Ala431=
ENST00000415529.2:c.1343T>C	ENSP00000413179.1:n.1343T>C
ENST00000421592.5:c.1341T>C	ENSP00000399552.1:p.Ala447=
ENST00000423724.5:c.1391T>C	ENSP00000391369.1:n.1391T>C
ENST00000426151.5:c.1293T>C	ENSP00000389295.1:p.Ala431=
NM_001164737.1:c.1395T>C	NP_001158209.1:p.Ala465=
NM_001164738.1:c.1293T>C	NP_001158210.1:p.Ala431=
NM_001742.3:c.1293T>C	NP_001733.1:p.Ala431=
NM_001164737.2:c.1341T>C	NP_001158209.2:p.Ala447=
NM_001742.4:c.1293T>C MANE Select	NP_001733.1:p.Ala431=
NM_001164737.3:c.1341T>C	NP_001158209.2:p.Ala447=
NM_001164738.2:c.1293T>C	NP_001158210.1:p.Ala431=