Canonical Allele Identifier: CA309077363

Gene: CALM3

Linked Data

• ClinVar Variation Id: 748876
• ClinVar RCV Id: RCV000925700
• dbSNP Id: rs887745567
• MyVariant Identifiers: chr19:g.47112153C>T (hg19) ; chr19:g.46608896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608896C>T , CM000681.2:g.46608896C>T	GRCh38
NC_000019.9:g.47112153C>T , CM000681.1:g.47112153C>T	GRCh37
NC_000019.8:g.51803993C>T	NCBI36
NG_051331.1:g.12823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.336C>T MANE Select	ENSP00000291295.8:p.Asn112=
ENST00000595072.2:n.2765C>T
ENST00000602169.2:c.*372C>T	ENSP00000499372.1:n.*372C>T
ENST00000291295.13:c.336C>T	ENSP00000291295.8:p.Asn112=
ENST00000391918.6:c.228C>T	ENSP00000375785.2:p.Asn76=
ENST00000477244.5:n.460C>T
ENST00000482455.5:n.446C>T
ENST00000486500.1:n.794C>T
ENST00000594523.5:c.228C>T	ENSP00000468877.1:p.Asn76=
ENST00000595072.1:n.526C>T
ENST00000596362.1:c.336C>T	ENSP00000472141.1:p.Asn112=
ENST00000597743.5:c.166-28C>T	ENSP00000470308.1:n.166-28C>T
ENST00000597868.5:n.661C>T
ENST00000598871.5:c.228C>T	ENSP00000470502.1:p.Asn76=
ENST00000599839.5:c.228C>T	ENSP00000471225.1:p.Asn76=
NM_005184.2:c.336C>T	NP_005175.2:p.Asn112=
NM_001329921.1:c.228C>T	NP_001316850.1:p.Asn76=
NM_001329922.1:c.336C>T	NP_001316851.1:p.Asn112=
NM_001329923.1:c.228C>T	NP_001316852.1:p.Asn76=
NM_001329924.1:c.228C>T	NP_001316853.1:p.Asn76=
NM_001329925.1:c.228C>T	NP_001316854.1:p.Asn76=
NM_001329926.1:c.228C>T	NP_001316855.1:p.Asn76=
NM_005184.3:c.336C>T	NP_005175.2:p.Asn112=
NM_001329924.2:c.228C>T	NP_001316853.1:p.Asn76=
NM_001329925.2:c.228C>T	NP_001316854.1:p.Asn76=
NM_001329926.2:c.228C>T	NP_001316855.1:p.Asn76=
NM_005184.4:c.336C>T MANE Select	NP_005175.2:p.Asn112=