Canonical Allele Identifier: CA13946205
Gene: CALM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.90397013C>T
GRCh37 chr14:g.90863357C>T
gnomAD v2:
14:90863357 C / T
gnomAD v3:
14:90397013 C / T
gnomAD v4:
chr14-90397013-C-T
Joint Max Group AF 0.5588817 (NFE)
Genomes Max Group AF 0.55629212 (NFE)
Exomes Max Group AF 0.55862622 (NFE)
ClinVar RCV:
RCV001510397
RCV001675998
ClinVar Variation:
1164456
dbSNP:
12885713
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90397013C>T , CM000676.2:g.90397013C>T GRCh38
NC_000014.8:g.90863357C>T , CM000676.1:g.90863357C>T GRCh37
NC_000014.7:g.89933110C>T NCBI36
NG_013338.1:g.5031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356978.8:c.-218C>T ENSP00000349467.4:n.-218C>T
ENST00000557020.5:c.-106+355C>T ENSP00000451062.1:n.-106+355C>T
NM_006888.4:c.-218C>T NP_008819.1:n.-218C>T
NM_001363669.1:c.-106+355C>T NP_001350598.1:n.-106+355C>T
NM_006888.5:c.-218C>T NP_008819.1:n.-218C>T
NM_001363669.2:c.-106+355C>T NP_001350598.1:n.-106+355C>T
Search 100 bp 5'
Search 100 bp 3'