Canonical Allele Identifier: CA389052340
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431670A>T , CM000676.2:g.23431670A>T GRCh38
NC_000014.8:g.23900879A>T , CM000676.1:g.23900879A>T GRCh37
NC_000014.7:g.22970719A>T NCBI36
NG_007884.1:g.8992T>A , LRG_384:g.8992T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.647T>A MANE Select ENSP00000347507.3:p.Leu216Gln
ENST00000355349.3:c.647T>A ENSP00000347507.3:p.Leu216Gln
NM_000257.3:c.647T>A NP_000248.2:p.Leu216Gln
XR_245686.3:n.753T>A
XM_017021340.1:c.647T>A XP_016876829.1:p.Leu216Gln
NM_000257.4:c.647T>A MANE Select NP_000248.2:p.Leu216Gln