Canonical Allele Identifier: CA389050376
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897752T>A (hg19) chr14:g.23428543T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428543T>A , CM000676.2:g.23428543T>A GRCh38
NC_000014.8:g.23897752T>A , CM000676.1:g.23897752T>A GRCh37
NC_000014.7:g.22967592T>A NCBI36
NG_007884.1:g.12119A>T , LRG_384:g.12119A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1535A>T MANE Select ENSP00000347507.3:p.Asp512Val
ENST00000355349.3:c.1535A>T ENSP00000347507.3:p.Asp512Val
NM_000257.3:c.1535A>T NP_000248.2:p.Asp512Val
XR_245686.3:n.1641A>T
XM_017021340.1:c.1535A>T XP_016876829.1:p.Asp512Val
NM_000257.4:c.1535A>T MANE Select NP_000248.2:p.Asp512Val
Search 100 bp 5'
Search 100 bp 3'