Canonical Allele Identifier: CA9529795

Gene: CALM3

Linked Data

• ClinVar Variation Id: 2080492
• ClinVar RCV Id: RCV003001970
• dbSNP Id: rs149759804
• ExAC: 19:47111862 A / G
• gnomAD v2: 19-47111862-A-G
• gnomAD v3: 19-46608605-A-G
• gnomAD v4: 19-46608605-A-G
• MyVariant Identifiers: chr19:g.47111862A>G (hg19) ; chr19:g.46608605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608605A>G , CM000681.2:g.46608605A>G	GRCh38
NC_000019.9:g.47111862A>G , CM000681.1:g.47111862A>G	GRCh37
NC_000019.8:g.51803702A>G	NCBI36
NG_051331.1:g.12532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.285+17A>G MANE Select	ENSP00000291295.8:n.285+17A>G
ENST00000595072.2:n.2714+17A>G
ENST00000602169.2:c.*321+17A>G	ENSP00000499372.1:n.*321+17A>G
ENST00000291295.13:c.285+17A>G	ENSP00000291295.8:n.285+17A>G
ENST00000391918.6:c.177+17A>G	ENSP00000375785.2:n.177+17A>G
ENST00000477244.5:n.409+17A>G
ENST00000482455.5:n.395+17A>G
ENST00000486500.1:n.503A>G
ENST00000594523.5:c.177+17A>G	ENSP00000468877.1:n.177+17A>G
ENST00000595072.1:n.475+17A>G
ENST00000596362.1:c.285+17A>G	ENSP00000472141.1:n.285+17A>G
ENST00000597743.5:c.165+278A>G	ENSP00000470308.1:n.165+278A>G
ENST00000597868.5:n.370A>G
ENST00000598871.5:c.177+17A>G	ENSP00000470502.1:n.177+17A>G
ENST00000599839.5:c.177+17A>G	ENSP00000471225.1:n.177+17A>G
NM_005184.2:c.285+17A>G	NP_005175.2:n.285+17A>G
NM_001329921.1:c.177+17A>G	NP_001316850.1:n.177+17A>G
NM_001329922.1:c.285+17A>G	NP_001316851.1:n.285+17A>G
NM_001329923.1:c.177+17A>G	NP_001316852.1:n.177+17A>G
NM_001329924.1:c.177+17A>G	NP_001316853.1:n.177+17A>G
NM_001329925.1:c.177+17A>G	NP_001316854.1:n.177+17A>G
NM_001329926.1:c.177+17A>G	NP_001316855.1:n.177+17A>G
NM_005184.3:c.285+17A>G	NP_005175.2:n.285+17A>G
NM_001329924.2:c.177+17A>G	NP_001316853.1:n.177+17A>G
NM_001329925.2:c.177+17A>G	NP_001316854.1:n.177+17A>G
NM_001329926.2:c.177+17A>G	NP_001316855.1:n.177+17A>G
NM_005184.4:c.285+17A>G MANE Select	NP_005175.2:n.285+17A>G