Canonical Allele Identifier: CA389050371
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897750A>C (hg19) chr14:g.23428541A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428541A>C , CM000676.2:g.23428541A>C GRCh38
NC_000014.8:g.23897750A>C , CM000676.1:g.23897750A>C GRCh37
NC_000014.7:g.22967590A>C NCBI36
NG_007884.1:g.12121T>G , LRG_384:g.12121T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1537T>G MANE Select ENSP00000347507.3:p.Phe513Val
ENST00000355349.3:c.1537T>G ENSP00000347507.3:p.Phe513Val
NM_000257.3:c.1537T>G NP_000248.2:p.Phe513Val
XR_245686.3:n.1643T>G
XM_017021340.1:c.1537T>G XP_016876829.1:p.Phe513Val
NM_000257.4:c.1537T>G MANE Select NP_000248.2:p.Phe513Val
Search 100 bp 5'
Search 100 bp 3'