Canonical Allele Identifier: CA406473053

Gene: CALM3

Linked Data

• gnomAD v4: 19-46608876-C-A
• MyVariant Identifiers: chr19:g.47112133C>A (hg19) ; chr19:g.46608876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608876C>A , CM000681.2:g.46608876C>A	GRCh38
NC_000019.9:g.47112133C>A , CM000681.1:g.47112133C>A	GRCh37
NC_000019.8:g.51803973C>A	NCBI36
NG_051331.1:g.12803C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.316C>A MANE Select	ENSP00000291295.8:p.Leu106Met
ENST00000595072.2:n.2745C>A
ENST00000602169.2:c.*352C>A	ENSP00000499372.1:n.*352C>A
ENST00000291295.13:c.316C>A	ENSP00000291295.8:p.Leu106Met
ENST00000391918.6:c.208C>A	ENSP00000375785.2:p.Leu70Met
ENST00000477244.5:n.440C>A
ENST00000482455.5:n.426C>A
ENST00000486500.1:n.774C>A
ENST00000594523.5:c.208C>A	ENSP00000468877.1:p.Leu70Met
ENST00000595072.1:n.506C>A
ENST00000596362.1:c.316C>A	ENSP00000472141.1:p.Leu106Met
ENST00000597743.5:c.166-48C>A	ENSP00000470308.1:n.166-48C>A
ENST00000597868.5:n.641C>A
ENST00000598871.5:c.208C>A	ENSP00000470502.1:p.Leu70Met
ENST00000599839.5:c.208C>A	ENSP00000471225.1:p.Leu70Met
NM_005184.2:c.316C>A	NP_005175.2:p.Leu106Met
NM_001329921.1:c.208C>A	NP_001316850.1:p.Leu70Met
NM_001329922.1:c.316C>A	NP_001316851.1:p.Leu106Met
NM_001329923.1:c.208C>A	NP_001316852.1:p.Leu70Met
NM_001329924.1:c.208C>A	NP_001316853.1:p.Leu70Met
NM_001329925.1:c.208C>A	NP_001316854.1:p.Leu70Met
NM_001329926.1:c.208C>A	NP_001316855.1:p.Leu70Met
NM_005184.3:c.316C>A	NP_005175.2:p.Leu106Met
NM_001329924.2:c.208C>A	NP_001316853.1:p.Leu70Met
NM_001329925.2:c.208C>A	NP_001316854.1:p.Leu70Met
NM_001329926.2:c.208C>A	NP_001316855.1:p.Leu70Met
NM_005184.4:c.316C>A MANE Select	NP_005175.2:p.Leu106Met