Canonical Allele Identifier: CA7305744

Gene: CALM1

Linked Data

• ClinVar Variation Id: 475382
• ClinVar RCV Id: RCV000530152 ; RCV000621045
• dbSNP Id: rs144339242
• ExAC: 14:90867637 T / C
• gnomAD v2: 14-90867637-T-C
• gnomAD v3: 14-90401293-T-C
• gnomAD v4: 14-90401293-T-C
• MyVariant Identifiers: chr14:g.90867637T>C (hg19) ; chr14:g.90401293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90401293T>C , CM000676.2:g.90401293T>C	GRCh38
NC_000014.8:g.90867637T>C , CM000676.1:g.90867637T>C	GRCh37
NC_000014.7:g.89937390T>C	NCBI36
NG_013338.1:g.9311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.69T>C MANE Select	ENSP00000349467.4:p.Asp23=
ENST00000447653.8:c.-40T>C	ENSP00000403491.4:n.-40T>C
ENST00000659177.1:c.-40T>C	ENSP00000499421.1:n.-40T>C
ENST00000663135.1:c.-40T>C	ENSP00000499498.1:n.-40T>C
ENST00000356978.8:c.69T>C	ENSP00000349467.4:p.Asp23=
ENST00000447653.7:c.72T>C	ENSP00000403491.3:p.Asp24=
ENST00000544280.6:c.-40T>C	ENSP00000442853.2:n.-40T>C
ENST00000553542.5:c.-40T>C	ENSP00000450829.1:n.-40T>C
ENST00000553630.1:c.69T>C	ENSP00000451646.1:p.Asp23=
ENST00000553964.5:n.2199T>C
ENST00000553995.5:n.268T>C
ENST00000555267.1:n.153T>C
ENST00000556757.5:n.268T>C
ENST00000557020.5:c.-40T>C	ENSP00000451062.1:n.-40T>C
ENST00000626705.2:c.69T>C	ENSP00000486402.1:p.Asp23=
NM_006888.4:c.69T>C	NP_008819.1:p.Asp23=
XM_006720258.2:c.72T>C	XP_006720321.1:p.Asp24=
NM_001363669.1:c.-40T>C	NP_001350598.1:n.-40T>C
NM_001363670.1:c.72T>C	NP_001350599.1:p.Asp24=
NM_006888.5:c.69T>C	NP_008819.1:p.Asp23=
NM_006888.6:c.69T>C MANE Select	NP_008819.1:p.Asp23=
NM_001363669.2:c.-40T>C	NP_001350598.1:n.-40T>C
NM_001363670.2:c.72T>C	NP_001350599.1:p.Asp24=