Canonical Allele Identifier: CA389046289
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423651G>C , CM000676.2:g.23423651G>C GRCh38
NC_000014.8:g.23892860G>C , CM000676.1:g.23892860G>C GRCh37
NC_000014.7:g.22962700G>C NCBI36
NG_007884.1:g.17011C>G , LRG_384:g.17011C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2995C>G MANE Select ENSP00000347507.3:p.Leu999Val
ENST00000355349.3:c.2995C>G ENSP00000347507.3:p.Leu999Val
NM_000257.3:c.2995C>G NP_000248.2:p.Leu999Val
XR_245686.3:n.3101C>G
XM_017021340.1:c.2995C>G XP_016876829.1:p.Leu999Val
NM_000257.4:c.2995C>G MANE Select NP_000248.2:p.Leu999Val