Canonical Allele Identifier: CA237351
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191714
ClinVar RCV Id: RCV000172026 RCV000852450 RCV001088140 RCV002372075 RCV004539581
dbSNP Id: rs757840030
ExAC: 14:23858255 C / T
gnomAD v2: 14-23858255-C-T
gnomAD v3: 14-23389046-C-T
gnomAD v4: 14-23389046-C-T
MyVariant Identifiers: chr14:g.23858255C>T (hg19) chr14:g.23389046C>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23389046C>T , CM000676.2:g.23389046C>T GRCh38
NC_000014.8:g.23858255C>T , CM000676.1:g.23858255C>T GRCh37
NC_000014.7:g.22928095C>T NCBI36
NG_023444.1:g.24232G>A , LRG_389:g.24232G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.3988G>A MANE Select ENSP00000386041.3:p.Ala1330Thr
ENST00000356287.3:c.3988G>A ENSP00000348634.3:p.Ala1330Thr
ENST00000405093.7:c.3988G>A ENSP00000386041.3:p.Ala1330Thr
NM_002471.3:c.3988G>A , LRG_389t1:c.3988G>A NP_002462.2:p.Ala1330Thr
NM_002471.4:c.3988G>A MANE Select NP_002462.2:p.Ala1330Thr
Search 100 bp 5'
Search 100 bp 3'