Canonical Allele Identifier: CA406473897

Gene: CALM3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46609129T>G , CM000681.2:g.46609129T>G	GRCh38
NC_000019.9:g.47112386T>G , CM000681.1:g.47112386T>G	GRCh37
NC_000019.8:g.51804226T>G	NCBI36
NG_051331.1:g.13056T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005184.4:c.426T>G MANE Select	NP_005175.2:p.Phe142Leu
ENST00000291295.14:c.426T>G MANE Select	ENSP00000291295.8:p.Phe142Leu
NM_001329921.1:c.318T>G	NP_001316850.1:p.Phe106Leu
NM_001329922.1:c.426T>G	NP_001316851.1:p.Phe142Leu
NM_001329923.1:c.318T>G	NP_001316852.1:p.Phe106Leu
NM_001329924.1:c.318T>G	NP_001316853.1:p.Phe106Leu
NM_001329924.2:c.318T>G	NP_001316853.1:p.Phe106Leu
NM_001329925.1:c.318T>G	NP_001316854.1:p.Phe106Leu
NM_001329925.2:c.318T>G	NP_001316854.1:p.Phe106Leu
NM_001329926.1:c.318T>G	NP_001316855.1:p.Phe106Leu
NM_001329926.2:c.318T>G	NP_001316855.1:p.Phe106Leu
NM_005184.2:c.426T>G	NP_005175.2:p.Phe142Leu
NM_005184.3:c.426T>G	NP_005175.2:p.Phe142Leu
ENST00000291295.13:c.426T>G	ENSP00000291295.8:p.Phe142Leu
ENST00000391918.6:c.318T>G	ENSP00000375785.2:p.Phe106Leu
ENST00000477244.5:n.550T>G
ENST00000482455.5:n.536T>G
ENST00000486500.1:n.884T>G
ENST00000594523.5:c.318T>G	ENSP00000468877.1:p.Phe106Leu
ENST00000595072.1:n.616T>G
ENST00000595072.2:n.2855T>G
ENST00000596362.1:c.426T>G	ENSP00000472141.1:p.Phe142Leu
ENST00000597743.5:c.228T>G	ENSP00000470308.1:p.Phe76Leu
ENST00000597868.5:n.751T>G
ENST00000598871.5:c.318T>G	ENSP00000470502.1:p.Phe106Leu
ENST00000599839.5:c.318T>G	ENSP00000471225.1:p.Phe106Leu
ENST00000602169.2:c.*462T>G	ENSP00000499372.1:n.*462T>G