Canonical Allele Identifier: CA389052601
Gene: MYH7 HGNC NCBI

Linked Data

COSMIC: COSM4551597
MyVariant Identifiers: chr14:g.23901076C>T (hg19) chr14:g.23431867C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431867C>T , CM000676.2:g.23431867C>T GRCh38
NC_000014.8:g.23901076C>T , CM000676.1:g.23901076C>T GRCh37
NC_000014.7:g.22970916C>T NCBI36
NG_007884.1:g.8795G>A , LRG_384:g.8795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.533G>A MANE Select ENSP00000347507.3:p.Gly178Glu
ENST00000355349.3:c.533G>A ENSP00000347507.3:p.Gly178Glu
NM_000257.3:c.533G>A NP_000248.2:p.Gly178Glu
XR_245686.3:n.639G>A
XM_017021340.1:c.533G>A XP_016876829.1:p.Gly178Glu
NM_000257.4:c.533G>A MANE Select NP_000248.2:p.Gly178Glu
Search 100 bp 5'
Search 100 bp 3'