Canonical Allele Identifier: CA389050796
Community Standard Title: NM_000257.4(MYH7):c.1357C>G (p.Arg453Gly)
Gene: MYH7 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429005G>C , CM000676.2:g.23429005G>C GRCh38
NC_000014.8:g.23898214G>C , CM000676.1:g.23898214G>C GRCh37
NC_000014.7:g.22968054G>C NCBI36
NG_007884.1:g.11657C>G , LRG_384:g.11657C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.1357C>G MANE Select NP_000248.2:p.Arg453Gly
ENST00000355349.4:c.1357C>G MANE Select ENSP00000347507.3:p.Arg453Gly
NM_000257.3:c.1357C>G NP_000248.2:p.Arg453Gly
ENST00000355349.3:c.1357C>G ENSP00000347507.3:p.Arg453Gly
XM_017021340.1:c.1357C>G XP_016876829.1:p.Arg453Gly
XR_245686.3:n.1463C>G
Search 100 bp 5'
Search 100 bp 3'