Canonical Allele Identifier: CA7305705

Gene: CALM1

Linked Data

• ClinVar Variation Id: 506366
• ClinVar RCV Id: RCV000616131
• dbSNP Id: rs12886083
• ExAC: 14:90863543 C / T
• gnomAD v2: 14-90863543-C-T
• gnomAD v3: 14-90397199-C-T
• gnomAD v4: 14-90397199-C-T
• MyVariant Identifiers: chr14:g.90863543C>T (hg19) ; chr14:g.90397199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90397199C>T , CM000676.2:g.90397199C>T	GRCh38
NC_000014.8:g.90863543C>T , CM000676.1:g.90863543C>T	GRCh37
NC_000014.7:g.89933296C>T	NCBI36
NG_013338.1:g.5217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.-32C>T MANE Select	ENSP00000349467.4:n.-32C>T
ENST00000447653.8:c.-237C>T	ENSP00000403491.4:n.-237C>T
ENST00000356978.8:c.-32C>T	ENSP00000349467.4:n.-32C>T
ENST00000447653.7:c.-126C>T	ENSP00000403491.3:n.-126C>T
ENST00000553542.5:c.-106+45C>T	ENSP00000450829.1:n.-106+45C>T
ENST00000553630.1:c.-32C>T	ENSP00000451646.1:n.-32C>T
ENST00000553995.5:n.168C>T
ENST00000555132.5:n.168C>T
ENST00000556757.5:n.168C>T
ENST00000557020.5:c.-106+541C>T	ENSP00000451062.1:n.-106+541C>T
ENST00000557123.5:n.168C>T
ENST00000626705.2:c.-32C>T	ENSP00000486402.1:n.-32C>T
NM_006888.4:c.-32C>T	NP_008819.1:n.-32C>T
NM_001363669.1:c.-106+541C>T	NP_001350598.1:n.-106+541C>T
NM_006888.5:c.-32C>T	NP_008819.1:n.-32C>T
NM_006888.6:c.-32C>T MANE Select	NP_008819.1:n.-32C>T
NM_001363669.2:c.-106+541C>T	NP_001350598.1:n.-106+541C>T