Canonical Allele Identifier: CA389050250
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897094T>G (hg19) chr14:g.23427885T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427885T>G , CM000676.2:g.23427885T>G GRCh38
NC_000014.8:g.23897094T>G , CM000676.1:g.23897094T>G GRCh37
NC_000014.7:g.22966934T>G NCBI36
NG_007884.1:g.12777A>C , LRG_384:g.12777A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1588A>C MANE Select ENSP00000347507.3:p.Ile530Leu
ENST00000355349.3:c.1588A>C ENSP00000347507.3:p.Ile530Leu
NM_000257.3:c.1588A>C NP_000248.2:p.Ile530Leu
XR_245686.3:n.1694A>C
XM_017021340.1:c.1588A>C XP_016876829.1:p.Ile530Leu
NM_000257.4:c.1588A>C MANE Select NP_000248.2:p.Ile530Leu
Search 100 bp 5'
Search 100 bp 3'