Canonical Allele Identifier: CA9529826

Gene: CALM3

Linked Data

• ClinVar Variation Id: 2789948
• ClinVar RCV Id: RCV003607689
• dbSNP Id: rs202189304
• ExAC: 19:47112159 G / A
• gnomAD v2: 19-47112159-G-A
• gnomAD v3: 19-46608902-G-A
• gnomAD v4: 19-46608902-G-A
• MyVariant Identifiers: chr19:g.47112159G>A (hg19) ; chr19:g.46608902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608902G>A , CM000681.2:g.46608902G>A	GRCh38
NC_000019.9:g.47112159G>A , CM000681.1:g.47112159G>A	GRCh37
NC_000019.8:g.51803999G>A	NCBI36
NG_051331.1:g.12829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.342G>A MANE Select	ENSP00000291295.8:p.Gly114=
ENST00000595072.2:n.2771G>A
ENST00000602169.2:c.*378G>A	ENSP00000499372.1:n.*378G>A
ENST00000291295.13:c.342G>A	ENSP00000291295.8:p.Gly114=
ENST00000391918.6:c.234G>A	ENSP00000375785.2:p.Gly78=
ENST00000477244.5:n.466G>A
ENST00000482455.5:n.452G>A
ENST00000486500.1:n.800G>A
ENST00000594523.5:c.234G>A	ENSP00000468877.1:p.Gly78=
ENST00000595072.1:n.532G>A
ENST00000596362.1:c.342G>A	ENSP00000472141.1:p.Gly114=
ENST00000597743.5:c.166-22G>A	ENSP00000470308.1:n.166-22G>A
ENST00000597868.5:n.667G>A
ENST00000598871.5:c.234G>A	ENSP00000470502.1:p.Gly78=
ENST00000599839.5:c.234G>A	ENSP00000471225.1:p.Gly78=
NM_005184.2:c.342G>A	NP_005175.2:p.Gly114=
NM_001329921.1:c.234G>A	NP_001316850.1:p.Gly78=
NM_001329922.1:c.342G>A	NP_001316851.1:p.Gly114=
NM_001329923.1:c.234G>A	NP_001316852.1:p.Gly78=
NM_001329924.1:c.234G>A	NP_001316853.1:p.Gly78=
NM_001329925.1:c.234G>A	NP_001316854.1:p.Gly78=
NM_001329926.1:c.234G>A	NP_001316855.1:p.Gly78=
NM_005184.3:c.342G>A	NP_005175.2:p.Gly114=
NM_001329924.2:c.234G>A	NP_001316853.1:p.Gly78=
NM_001329925.2:c.234G>A	NP_001316854.1:p.Gly78=
NM_001329926.2:c.234G>A	NP_001316855.1:p.Gly78=
NM_005184.4:c.342G>A MANE Select	NP_005175.2:p.Gly114=