Canonical Allele Identifier: CA16616071

Gene: CALM3

Linked Data

• ClinVar Variation Id: 409871
• ClinVar RCV Id: RCV000475293 ; RCV000786284
• dbSNP Id: rs1060502608
• MyVariant Identifiers: chr19:g.47111841A>C (hg19) ; chr19:g.46608584A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608584A>C , CM000681.2:g.46608584A>C	GRCh38
NC_000019.9:g.47111841A>C , CM000681.1:g.47111841A>C	GRCh37
NC_000019.8:g.51803681A>C	NCBI36
NG_051331.1:g.12511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.281A>C MANE Select	ENSP00000291295.8:p.Asp94Ala
ENST00000595072.2:n.2710A>C
ENST00000602169.2:c.*317A>C	ENSP00000499372.1:n.*317A>C
ENST00000291295.13:c.281A>C	ENSP00000291295.8:p.Asp94Ala
ENST00000391918.6:c.173A>C	ENSP00000375785.2:p.Asp58Ala
ENST00000477244.5:n.405A>C
ENST00000482455.5:n.391A>C
ENST00000486500.1:n.482A>C
ENST00000594523.5:c.173A>C	ENSP00000468877.1:p.Asp58Ala
ENST00000595072.1:n.471A>C
ENST00000596362.1:c.281A>C	ENSP00000472141.1:p.Asp94Ala
ENST00000597743.5:c.165+257A>C	ENSP00000470308.1:n.165+257A>C
ENST00000597868.5:n.349A>C
ENST00000598871.5:c.173A>C	ENSP00000470502.1:p.Asp58Ala
ENST00000599839.5:c.173A>C	ENSP00000471225.1:p.Asp58Ala
NM_005184.2:c.281A>C	NP_005175.2:p.Asp94Ala
NM_001329921.1:c.173A>C	NP_001316850.1:p.Asp58Ala
NM_001329922.1:c.281A>C	NP_001316851.1:p.Asp94Ala
NM_001329923.1:c.173A>C	NP_001316852.1:p.Asp58Ala
NM_001329924.1:c.173A>C	NP_001316853.1:p.Asp58Ala
NM_001329925.1:c.173A>C	NP_001316854.1:p.Asp58Ala
NM_001329926.1:c.173A>C	NP_001316855.1:p.Asp58Ala
NM_005184.3:c.281A>C	NP_005175.2:p.Asp94Ala
NM_001329924.2:c.173A>C	NP_001316853.1:p.Asp58Ala
NM_001329925.2:c.173A>C	NP_001316854.1:p.Asp58Ala
NM_001329926.2:c.173A>C	NP_001316855.1:p.Asp58Ala
NM_005184.4:c.281A>C MANE Select	NP_005175.2:p.Asp94Ala