Canonical Allele Identifier: CA389052134
Community Standard Title: NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)
Gene: MYH7 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431468C>A , CM000676.2:g.23431468C>A GRCh38
NC_000014.8:g.23900677C>A , CM000676.1:g.23900677C>A GRCh37
NC_000014.7:g.22970517C>A NCBI36
NG_007884.1:g.9194G>T , LRG_384:g.9194G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.746G>T MANE Select NP_000248.2:p.Arg249Leu
ENST00000355349.4:c.746G>T MANE Select ENSP00000347507.3:p.Arg249Leu
NM_000257.3:c.746G>T NP_000248.2:p.Arg249Leu
ENST00000355349.3:c.746G>T ENSP00000347507.3:p.Arg249Leu
XM_017021340.1:c.746G>T XP_016876829.1:p.Arg249Leu
XR_245686.3:n.852G>T
Search 100 bp 5'
Search 100 bp 3'