Canonical Allele Identifier: CA389048955
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23895007G>T (hg19) chr14:g.23425798G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425798G>T , CM000676.2:g.23425798G>T GRCh38
NC_000014.8:g.23895007G>T , CM000676.1:g.23895007G>T GRCh37
NC_000014.7:g.22964847G>T NCBI36
NG_007884.1:g.14864C>A , LRG_384:g.14864C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2183C>A MANE Select ENSP00000347507.3:p.Ala728Glu
ENST00000355349.3:c.2183C>A ENSP00000347507.3:p.Ala728Glu
NM_000257.3:c.2183C>A NP_000248.2:p.Ala728Glu
XR_245686.3:n.2289C>A
XM_017021340.1:c.2183C>A XP_016876829.1:p.Ala728Glu
NM_000257.4:c.2183C>A MANE Select NP_000248.2:p.Ala728Glu
Search 100 bp 5'
Search 100 bp 3'