Canonical Allele Identifier: CA389050386
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23897756T>C (hg19) chr14:g.23428547T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428547T>C , CM000676.2:g.23428547T>C GRCh38
NC_000014.8:g.23897756T>C , CM000676.1:g.23897756T>C GRCh37
NC_000014.7:g.22967596T>C NCBI36
NG_007884.1:g.12115A>G , LRG_384:g.12115A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1531A>G MANE Select ENSP00000347507.3:p.Ile511Val
ENST00000355349.3:c.1531A>G ENSP00000347507.3:p.Ile511Val
NM_000257.3:c.1531A>G NP_000248.2:p.Ile511Val
XR_245686.3:n.1637A>G
XM_017021340.1:c.1531A>G XP_016876829.1:p.Ile511Val
NM_000257.4:c.1531A>G MANE Select NP_000248.2:p.Ile511Val
Search 100 bp 5'
Search 100 bp 3'