Canonical Allele Identifier: CA9529819

Gene: CALM3

Linked Data

• ClinVar Variation Id: 458196
• ClinVar RCV Id: RCV001547544 ; RCV002231027 ; RCV002323929 ; RCV003905339
• dbSNP Id: rs200095251
• ExAC: 19:47112126 C / T
• gnomAD v2: 19-47112126-C-T
• gnomAD v3: 19-46608869-C-T
• gnomAD v4: 19-46608869-C-T
• MyVariant Identifiers: chr19:g.47112126C>T (hg19) ; chr19:g.46608869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608869C>T , CM000681.2:g.46608869C>T	GRCh38
NC_000019.9:g.47112126C>T , CM000681.1:g.47112126C>T	GRCh37
NC_000019.8:g.51803966C>T	NCBI36
NG_051331.1:g.12796C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291295.14:c.309C>T MANE Select	ENSP00000291295.8:p.Ala103=
ENST00000595072.2:n.2738C>T
ENST00000602169.2:c.*345C>T	ENSP00000499372.1:n.*345C>T
ENST00000291295.13:c.309C>T	ENSP00000291295.8:p.Ala103=
ENST00000391918.6:c.201C>T	ENSP00000375785.2:p.Ala67=
ENST00000477244.5:n.433C>T
ENST00000482455.5:n.419C>T
ENST00000486500.1:n.767C>T
ENST00000594523.5:c.201C>T	ENSP00000468877.1:p.Ala67=
ENST00000595072.1:n.499C>T
ENST00000596362.1:c.309C>T	ENSP00000472141.1:p.Ala103=
ENST00000597743.5:c.166-55C>T	ENSP00000470308.1:n.166-55C>T
ENST00000597868.5:n.634C>T
ENST00000598871.5:c.201C>T	ENSP00000470502.1:p.Ala67=
ENST00000599839.5:c.201C>T	ENSP00000471225.1:p.Ala67=
NM_005184.2:c.309C>T	NP_005175.2:p.Ala103=
NM_001329921.1:c.201C>T	NP_001316850.1:p.Ala67=
NM_001329922.1:c.309C>T	NP_001316851.1:p.Ala103=
NM_001329923.1:c.201C>T	NP_001316852.1:p.Ala67=
NM_001329924.1:c.201C>T	NP_001316853.1:p.Ala67=
NM_001329925.1:c.201C>T	NP_001316854.1:p.Ala67=
NM_001329926.1:c.201C>T	NP_001316855.1:p.Ala67=
NM_005184.3:c.309C>T	NP_005175.2:p.Ala103=
NM_001329924.2:c.201C>T	NP_001316853.1:p.Ala67=
NM_001329925.2:c.201C>T	NP_001316854.1:p.Ala67=
NM_001329926.2:c.201C>T	NP_001316855.1:p.Ala67=
NM_005184.4:c.309C>T MANE Select	NP_005175.2:p.Ala103=