Canonical Allele Identifier: CA9529783

Gene: CALM3

Linked Data

• ClinVar Variation Id: 240117
• ClinVar RCV Id: RCV000229628 ; RCV000444360 ; RCV002418014 ; RCV003422149
• dbSNP Id: rs34089805
• ExAC: 19:47111761 G / A
• gnomAD v2: 19-47111761-G-A
• gnomAD v3: 19-46608504-G-A
• gnomAD v4: 19-46608504-G-A
• MyVariant Identifiers: chr19:g.47111761G>A (hg19) ; chr19:g.46608504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608504G>A , CM000681.2:g.46608504G>A	GRCh38
NC_000019.9:g.47111761G>A , CM000681.1:g.47111761G>A	GRCh37
NC_000019.8:g.51803601G>A	NCBI36
NG_051331.1:g.12431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.201G>A MANE Select	ENSP00000291295.8:p.Pro67=
ENST00000595072.2:n.2630G>A
ENST00000602169.2:c.*237G>A	ENSP00000499372.1:n.*237G>A
ENST00000291295.13:c.201G>A	ENSP00000291295.8:p.Pro67=
ENST00000391918.6:c.93G>A	ENSP00000375785.2:p.Pro31=
ENST00000477244.5:n.325G>A
ENST00000482455.5:n.311G>A
ENST00000486500.1:n.402G>A
ENST00000594523.5:c.93G>A	ENSP00000468877.1:p.Pro31=
ENST00000595072.1:n.391G>A
ENST00000596362.1:c.201G>A	ENSP00000472141.1:p.Pro67=
ENST00000597743.5:c.165+177G>A	ENSP00000470308.1:n.165+177G>A
ENST00000597868.5:n.269G>A
ENST00000598871.5:c.93G>A	ENSP00000470502.1:p.Pro31=
ENST00000599839.5:c.93G>A	ENSP00000471225.1:p.Pro31=
NM_005184.2:c.201G>A	NP_005175.2:p.Pro67=
NM_001329921.1:c.93G>A	NP_001316850.1:p.Pro31=
NM_001329922.1:c.201G>A	NP_001316851.1:p.Pro67=
NM_001329923.1:c.93G>A	NP_001316852.1:p.Pro31=
NM_001329924.1:c.93G>A	NP_001316853.1:p.Pro31=
NM_001329925.1:c.93G>A	NP_001316854.1:p.Pro31=
NM_001329926.1:c.93G>A	NP_001316855.1:p.Pro31=
NM_005184.3:c.201G>A	NP_005175.2:p.Pro67=
NM_001329924.2:c.93G>A	NP_001316853.1:p.Pro31=
NM_001329925.2:c.93G>A	NP_001316854.1:p.Pro31=
NM_001329926.2:c.93G>A	NP_001316855.1:p.Pro31=
NM_005184.4:c.201G>A MANE Select	NP_005175.2:p.Pro67=