Canonical Allele Identifier: CA9529821

Gene: CALM3

Linked Data

• ClinVar Variation Id: 1728652
• ClinVar RCV Id: RCV002322855 ; RCV003500702
• dbSNP Id: rs773943649
• ExAC: 19:47112135 G / T
• gnomAD v2: 19-47112135-G-T
• gnomAD v4: 19-46608878-G-T
• MyVariant Identifiers: chr19:g.47112135G>T (hg19) ; chr19:g.46608878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608878G>T , CM000681.2:g.46608878G>T	GRCh38
NC_000019.9:g.47112135G>T , CM000681.1:g.47112135G>T	GRCh37
NC_000019.8:g.51803975G>T	NCBI36
NG_051331.1:g.12805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.318G>T MANE Select	ENSP00000291295.8:p.Leu106=
ENST00000595072.2:n.2747G>T
ENST00000602169.2:c.*354G>T	ENSP00000499372.1:n.*354G>T
ENST00000291295.13:c.318G>T	ENSP00000291295.8:p.Leu106=
ENST00000391918.6:c.210G>T	ENSP00000375785.2:p.Leu70=
ENST00000477244.5:n.442G>T
ENST00000482455.5:n.428G>T
ENST00000486500.1:n.776G>T
ENST00000594523.5:c.210G>T	ENSP00000468877.1:p.Leu70=
ENST00000595072.1:n.508G>T
ENST00000596362.1:c.318G>T	ENSP00000472141.1:p.Leu106=
ENST00000597743.5:c.166-46G>T	ENSP00000470308.1:n.166-46G>T
ENST00000597868.5:n.643G>T
ENST00000598871.5:c.210G>T	ENSP00000470502.1:p.Leu70=
ENST00000599839.5:c.210G>T	ENSP00000471225.1:p.Leu70=
NM_005184.2:c.318G>T	NP_005175.2:p.Leu106=
NM_001329921.1:c.210G>T	NP_001316850.1:p.Leu70=
NM_001329922.1:c.318G>T	NP_001316851.1:p.Leu106=
NM_001329923.1:c.210G>T	NP_001316852.1:p.Leu70=
NM_001329924.1:c.210G>T	NP_001316853.1:p.Leu70=
NM_001329925.1:c.210G>T	NP_001316854.1:p.Leu70=
NM_001329926.1:c.210G>T	NP_001316855.1:p.Leu70=
NM_005184.3:c.318G>T	NP_005175.2:p.Leu106=
NM_001329924.2:c.210G>T	NP_001316853.1:p.Leu70=
NM_001329925.2:c.210G>T	NP_001316854.1:p.Leu70=
NM_001329926.2:c.210G>T	NP_001316855.1:p.Leu70=
NM_005184.4:c.318G>T MANE Select	NP_005175.2:p.Leu106=