Canonical Allele Identifier: CA507864755

Gene: CALM3

Linked Data

• ClinVar Variation Id: 1650921
• ClinVar RCV Id: RCV002149283
• dbSNP Id: rs1274089736
• MyVariant Identifiers: chr19:g.47112150G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608893G>C , CM000681.2:g.46608893G>C	GRCh38
NC_000019.9:g.47112150G>C , CM000681.1:g.47112150G>C	GRCh37
NC_000019.8:g.51803990G>C	NCBI36
NG_051331.1:g.12820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.333G>C MANE Select	ENSP00000291295.8:p.Thr111=
ENST00000595072.2:n.2762G>C
ENST00000602169.2:c.*369G>C	ENSP00000499372.1:n.*369G>C
ENST00000291295.13:c.333G>C	ENSP00000291295.8:p.Thr111=
ENST00000391918.6:c.225G>C	ENSP00000375785.2:p.Thr75=
ENST00000477244.5:n.457G>C
ENST00000482455.5:n.443G>C
ENST00000486500.1:n.791G>C
ENST00000594523.5:c.225G>C	ENSP00000468877.1:p.Thr75=
ENST00000595072.1:n.523G>C
ENST00000596362.1:c.333G>C	ENSP00000472141.1:p.Thr111=
ENST00000597743.5:c.166-31G>C	ENSP00000470308.1:n.166-31G>C
ENST00000597868.5:n.658G>C
ENST00000598871.5:c.225G>C	ENSP00000470502.1:p.Thr75=
ENST00000599839.5:c.225G>C	ENSP00000471225.1:p.Thr75=
NM_005184.2:c.333G>C	NP_005175.2:p.Thr111=
NM_001329921.1:c.225G>C	NP_001316850.1:p.Thr75=
NM_001329922.1:c.333G>C	NP_001316851.1:p.Thr111=
NM_001329923.1:c.225G>C	NP_001316852.1:p.Thr75=
NM_001329924.1:c.225G>C	NP_001316853.1:p.Thr75=
NM_001329925.1:c.225G>C	NP_001316854.1:p.Thr75=
NM_001329926.1:c.225G>C	NP_001316855.1:p.Thr75=
NM_005184.3:c.333G>C	NP_005175.2:p.Thr111=
NM_001329924.2:c.225G>C	NP_001316853.1:p.Thr75=
NM_001329925.2:c.225G>C	NP_001316854.1:p.Thr75=
NM_001329926.2:c.225G>C	NP_001316855.1:p.Thr75=
NM_005184.4:c.333G>C MANE Select	NP_005175.2:p.Thr111=