Canonical Allele Identifier: CA7305795

Gene: CALM1

Linked Data

• ClinVar Variation Id: 475381
• ClinVar RCV Id: RCV000541358 ; RCV000615644 ; RCV000618235 ; RCV001700161 ; RCV003945313
• dbSNP Id: rs143503733
• ExAC: 14:90870740 C / T
• gnomAD v2: 14-90870740-C-T
• gnomAD v3: 14-90404396-C-T
• gnomAD v4: 14-90404396-C-T
• MyVariant Identifiers: chr14:g.90870740C>T (hg19) ; chr14:g.90404396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404396C>T , CM000676.2:g.90404396C>T	GRCh38
NC_000014.8:g.90870740C>T , CM000676.1:g.90870740C>T	GRCh37
NC_000014.7:g.89940493C>T	NCBI36
NG_013338.1:g.12414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.303C>T MANE Select	ENSP00000349467.4:p.Ile101=
ENST00000447653.8:c.195C>T	ENSP00000403491.4:p.Ile65=
ENST00000659177.1:c.195C>T	ENSP00000499421.1:p.Ile65=
ENST00000663135.1:c.195C>T	ENSP00000499498.1:p.Ile65=
ENST00000356978.8:c.303C>T	ENSP00000349467.4:p.Ile101=
ENST00000447653.7:c.306C>T	ENSP00000403491.3:p.Ile102=
ENST00000544280.6:c.195C>T	ENSP00000442853.2:p.Ile65=
ENST00000553422.1:c.178-3C>T	ENSP00000450425.1:n.178-3C>T
ENST00000553542.5:c.195C>T	ENSP00000450829.1:p.Ile65=
ENST00000553630.1:c.196C>T	ENSP00000451646.1:p.Gln66Ter
ENST00000553964.5:n.2433C>T
ENST00000554296.1:n.355C>T
ENST00000556721.1:n.229C>T
ENST00000557020.5:c.195C>T	ENSP00000451062.1:p.Ile65=
ENST00000626705.2:c.166-61C>T	ENSP00000486402.1:n.166-61C>T
NM_006888.4:c.303C>T	NP_008819.1:p.Ile101=
XM_006720258.2:c.306C>T	XP_006720321.1:p.Ile102=
NM_001363669.1:c.195C>T	NP_001350598.1:p.Ile65=
NM_001363670.1:c.306C>T	NP_001350599.1:p.Ile102=
NM_006888.5:c.303C>T	NP_008819.1:p.Ile101=
NM_006888.6:c.303C>T MANE Select	NP_008819.1:p.Ile101=
NM_001363669.2:c.195C>T	NP_001350598.1:p.Ile65=
NM_001363670.2:c.306C>T	NP_001350599.1:p.Ile102=