Canonical Allele Identifier: CA406473026

Gene: CALM3

Linked Data

• ClinVar Variation Id: 579223
• ClinVar RCV Id: RCV000702453
• dbSNP Id: rs1568666713
• gnomAD v4: 19-46608868-C-T
• MyVariant Identifiers: chr19:g.47112125C>T (hg19) ; chr19:g.46608868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608868C>T , CM000681.2:g.46608868C>T	GRCh38
NC_000019.9:g.47112125C>T , CM000681.1:g.47112125C>T	GRCh37
NC_000019.8:g.51803965C>T	NCBI36
NG_051331.1:g.12795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.308C>T MANE Select	ENSP00000291295.8:p.Ala103Val
ENST00000595072.2:n.2737C>T
ENST00000602169.2:c.*344C>T	ENSP00000499372.1:n.*344C>T
ENST00000291295.13:c.308C>T	ENSP00000291295.8:p.Ala103Val
ENST00000391918.6:c.200C>T	ENSP00000375785.2:p.Ala67Val
ENST00000477244.5:n.432C>T
ENST00000482455.5:n.418C>T
ENST00000486500.1:n.766C>T
ENST00000594523.5:c.200C>T	ENSP00000468877.1:p.Ala67Val
ENST00000595072.1:n.498C>T
ENST00000596362.1:c.308C>T	ENSP00000472141.1:p.Ala103Val
ENST00000597743.5:c.166-56C>T	ENSP00000470308.1:n.166-56C>T
ENST00000597868.5:n.633C>T
ENST00000598871.5:c.200C>T	ENSP00000470502.1:p.Ala67Val
ENST00000599839.5:c.200C>T	ENSP00000471225.1:p.Ala67Val
NM_005184.2:c.308C>T	NP_005175.2:p.Ala103Val
NM_001329921.1:c.200C>T	NP_001316850.1:p.Ala67Val
NM_001329922.1:c.308C>T	NP_001316851.1:p.Ala103Val
NM_001329923.1:c.200C>T	NP_001316852.1:p.Ala67Val
NM_001329924.1:c.200C>T	NP_001316853.1:p.Ala67Val
NM_001329925.1:c.200C>T	NP_001316854.1:p.Ala67Val
NM_001329926.1:c.200C>T	NP_001316855.1:p.Ala67Val
NM_005184.3:c.308C>T	NP_005175.2:p.Ala103Val
NM_001329924.2:c.200C>T	NP_001316853.1:p.Ala67Val
NM_001329925.2:c.200C>T	NP_001316854.1:p.Ala67Val
NM_001329926.2:c.200C>T	NP_001316855.1:p.Ala67Val
NM_005184.4:c.308C>T MANE Select	NP_005175.2:p.Ala103Val