Canonical Allele Identifier: CA7305829

Gene: CALM1

Linked Data

• ClinVar Variation Id: 1122289
• ClinVar RCV Id: RCV001452878
• dbSNP Id: rs199744595
• ExAC: 14:90871037 C / T
• gnomAD v2: 14-90871037-C-T
• gnomAD v3: 14-90404693-C-T
• gnomAD v4: 14-90404693-C-T
• MyVariant Identifiers: chr14:g.90871037C>T (hg19) ; chr14:g.90404693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404693C>T , CM000676.2:g.90404693C>T	GRCh38
NC_000014.8:g.90871037C>T , CM000676.1:g.90871037C>T	GRCh37
NC_000014.7:g.89940790C>T	NCBI36
NG_013338.1:g.12711C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356978.9:c.426C>T MANE Select	ENSP00000349467.4:p.Phe142=
ENST00000447653.8:c.318C>T	ENSP00000403491.4:p.Phe106=
ENST00000659177.1:c.318C>T	ENSP00000499421.1:p.Phe106=
ENST00000663135.1:c.318C>T	ENSP00000499498.1:p.Phe106=
ENST00000356978.8:c.426C>T	ENSP00000349467.4:p.Phe142=
ENST00000447653.7:c.429C>T	ENSP00000403491.3:p.Phe143=
ENST00000544280.6:c.318C>T	ENSP00000442853.2:p.Phe106=
ENST00000553422.1:c.298C>T	ENSP00000450425.1:n.298C>T
ENST00000553542.5:c.318C>T	ENSP00000450829.1:p.Phe106=
ENST00000553630.1:c.*67C>T	ENSP00000451646.1:n.*67C>T
ENST00000553964.5:n.2556C>T
ENST00000554296.1:n.478C>T
ENST00000556721.1:n.352C>T
ENST00000626705.2:c.228C>T	ENSP00000486402.1:p.Phe76=
NM_006888.4:c.426C>T	NP_008819.1:p.Phe142=
XM_006720258.2:c.429C>T	XP_006720321.1:p.Phe143=
NM_001363669.1:c.318C>T	NP_001350598.1:p.Phe106=
NM_001363670.1:c.429C>T	NP_001350599.1:p.Phe143=
NM_006888.5:c.426C>T	NP_008819.1:p.Phe142=
NM_006888.6:c.426C>T MANE Select	NP_008819.1:p.Phe142=
NM_001363669.2:c.318C>T	NP_001350598.1:p.Phe106=
NM_001363670.2:c.429C>T	NP_001350599.1:p.Phe143=