Canonical Allele Identifier: CA406472799

Gene: CALM3

Linked Data

• gnomAD v4: 19-46608577-G-C
• MyVariant Identifiers: chr19:g.47111834G>C (hg19) ; chr19:g.46608577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608577G>C , CM000681.2:g.46608577G>C	GRCh38
NC_000019.9:g.47111834G>C , CM000681.1:g.47111834G>C	GRCh37
NC_000019.8:g.51803674G>C	NCBI36
NG_051331.1:g.12504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.274G>C MANE Select	ENSP00000291295.8:p.Val92Leu
ENST00000595072.2:n.2703G>C
ENST00000602169.2:c.*310G>C	ENSP00000499372.1:n.*310G>C
ENST00000291295.13:c.274G>C	ENSP00000291295.8:p.Val92Leu
ENST00000391918.6:c.166G>C	ENSP00000375785.2:p.Val56Leu
ENST00000477244.5:n.398G>C
ENST00000482455.5:n.384G>C
ENST00000486500.1:n.475G>C
ENST00000594523.5:c.166G>C	ENSP00000468877.1:p.Val56Leu
ENST00000595072.1:n.464G>C
ENST00000596362.1:c.274G>C	ENSP00000472141.1:p.Val92Leu
ENST00000597743.5:c.165+250G>C	ENSP00000470308.1:n.165+250G>C
ENST00000597868.5:n.342G>C
ENST00000598871.5:c.166G>C	ENSP00000470502.1:p.Val56Leu
ENST00000599839.5:c.166G>C	ENSP00000471225.1:p.Val56Leu
NM_005184.2:c.274G>C	NP_005175.2:p.Val92Leu
NM_001329921.1:c.166G>C	NP_001316850.1:p.Val56Leu
NM_001329922.1:c.274G>C	NP_001316851.1:p.Val92Leu
NM_001329923.1:c.166G>C	NP_001316852.1:p.Val56Leu
NM_001329924.1:c.166G>C	NP_001316853.1:p.Val56Leu
NM_001329925.1:c.166G>C	NP_001316854.1:p.Val56Leu
NM_001329926.1:c.166G>C	NP_001316855.1:p.Val56Leu
NM_005184.3:c.274G>C	NP_005175.2:p.Val92Leu
NM_001329924.2:c.166G>C	NP_001316853.1:p.Val56Leu
NM_001329925.2:c.166G>C	NP_001316854.1:p.Val56Leu
NM_001329926.2:c.166G>C	NP_001316855.1:p.Val56Leu
NM_005184.4:c.274G>C MANE Select	NP_005175.2:p.Val92Leu