Canonical Allele Identifier: CA406472230

Gene: CALM3

Linked Data

• MyVariant Identifiers: chr19:g.47111585G>C (hg19) ; chr19:g.46608328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608328G>C , CM000681.2:g.46608328G>C	GRCh38
NC_000019.9:g.47111585G>C , CM000681.1:g.47111585G>C	GRCh37
NC_000019.8:g.51803425G>C	NCBI36
NG_051331.1:g.12255G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.166G>C MANE Select	ENSP00000291295.8:p.Val56Leu
ENST00000595072.2:n.2595G>C
ENST00000602169.2:c.*202G>C	ENSP00000499372.1:n.*202G>C
ENST00000291295.13:c.166G>C	ENSP00000291295.8:p.Val56Leu
ENST00000391918.6:c.58G>C	ENSP00000375785.2:p.Val20Leu
ENST00000477244.5:n.290G>C
ENST00000482455.5:n.276G>C
ENST00000486500.1:n.367G>C
ENST00000594523.5:c.58G>C	ENSP00000468877.1:p.Val20Leu
ENST00000595072.1:n.356G>C
ENST00000596362.1:c.166G>C	ENSP00000472141.1:p.Val56Leu
ENST00000597743.5:c.165+1G>C	ENSP00000470308.1:n.165+1G>C
ENST00000597868.5:n.234G>C
ENST00000598871.5:c.58G>C	ENSP00000470502.1:p.Val20Leu
ENST00000599839.5:c.58G>C	ENSP00000471225.1:p.Val20Leu
NM_005184.2:c.166G>C	NP_005175.2:p.Val56Leu
NM_001329921.1:c.58G>C	NP_001316850.1:p.Val20Leu
NM_001329922.1:c.166G>C	NP_001316851.1:p.Val56Leu
NM_001329923.1:c.58G>C	NP_001316852.1:p.Val20Leu
NM_001329924.1:c.58G>C	NP_001316853.1:p.Val20Leu
NM_001329925.1:c.58G>C	NP_001316854.1:p.Val20Leu
NM_001329926.1:c.58G>C	NP_001316855.1:p.Val20Leu
NM_005184.3:c.166G>C	NP_005175.2:p.Val56Leu
NM_001329924.2:c.58G>C	NP_001316853.1:p.Val20Leu
NM_001329925.2:c.58G>C	NP_001316854.1:p.Val20Leu
NM_001329926.2:c.58G>C	NP_001316855.1:p.Val20Leu
NM_005184.4:c.166G>C MANE Select	NP_005175.2:p.Val56Leu