Canonical Allele Identifier: CA389011467
Gene: MYH6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23862718G>T (hg19) chr14:g.23393509G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393509G>T , CM000676.2:g.23393509G>T GRCh38
NC_000014.8:g.23862718G>T , CM000676.1:g.23862718G>T GRCh37
NC_000014.7:g.22932558G>T NCBI36
NG_023444.1:g.19769C>A , LRG_389:g.19769C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2938C>A MANE Select ENSP00000386041.3:p.Leu980Ile
ENST00000356287.3:c.2938C>A ENSP00000348634.3:p.Leu980Ile
ENST00000405093.7:c.2938C>A ENSP00000386041.3:p.Leu980Ile
NM_002471.3:c.2938C>A , LRG_389t1:c.2938C>A NP_002462.2:p.Leu980Ile
NM_002471.4:c.2938C>A MANE Select NP_002462.2:p.Leu980Ile
Search 100 bp 5'
Search 100 bp 3'