Canonical Allele Identifier: CA406472736

Gene: CALM3

Linked Data

• dbSNP Id: rs1307420144
• gnomAD v2: 19-47111820-G-A
• gnomAD v3: 19-46608563-G-A
• gnomAD v4: 19-46608563-G-A
• MyVariant Identifiers: chr19:g.47111820G>A (hg19) ; chr19:g.46608563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608563G>A , CM000681.2:g.46608563G>A	GRCh38
NC_000019.9:g.47111820G>A , CM000681.1:g.47111820G>A	GRCh37
NC_000019.8:g.51803660G>A	NCBI36
NG_051331.1:g.12490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.260G>A MANE Select	ENSP00000291295.8:p.Arg87Gln
ENST00000595072.2:n.2689G>A
ENST00000602169.2:c.*296G>A	ENSP00000499372.1:n.*296G>A
ENST00000291295.13:c.260G>A	ENSP00000291295.8:p.Arg87Gln
ENST00000391918.6:c.152G>A	ENSP00000375785.2:p.Arg51Gln
ENST00000477244.5:n.384G>A
ENST00000482455.5:n.370G>A
ENST00000486500.1:n.461G>A
ENST00000594523.5:c.152G>A	ENSP00000468877.1:p.Arg51Gln
ENST00000595072.1:n.450G>A
ENST00000596362.1:c.260G>A	ENSP00000472141.1:p.Arg87Gln
ENST00000597743.5:c.165+236G>A	ENSP00000470308.1:n.165+236G>A
ENST00000597868.5:n.328G>A
ENST00000598871.5:c.152G>A	ENSP00000470502.1:p.Arg51Gln
ENST00000599839.5:c.152G>A	ENSP00000471225.1:p.Arg51Gln
NM_005184.2:c.260G>A	NP_005175.2:p.Arg87Gln
NM_001329921.1:c.152G>A	NP_001316850.1:p.Arg51Gln
NM_001329922.1:c.260G>A	NP_001316851.1:p.Arg87Gln
NM_001329923.1:c.152G>A	NP_001316852.1:p.Arg51Gln
NM_001329924.1:c.152G>A	NP_001316853.1:p.Arg51Gln
NM_001329925.1:c.152G>A	NP_001316854.1:p.Arg51Gln
NM_001329926.1:c.152G>A	NP_001316855.1:p.Arg51Gln
NM_005184.3:c.260G>A	NP_005175.2:p.Arg87Gln
NM_001329924.2:c.152G>A	NP_001316853.1:p.Arg51Gln
NM_001329925.2:c.152G>A	NP_001316854.1:p.Arg51Gln
NM_001329926.2:c.152G>A	NP_001316855.1:p.Arg51Gln
NM_005184.4:c.260G>A MANE Select	NP_005175.2:p.Arg87Gln