Canonical Allele Identifier: CA389046392
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423681T>C , CM000676.2:g.23423681T>C GRCh38
NC_000014.8:g.23892890T>C , CM000676.1:g.23892890T>C GRCh37
NC_000014.7:g.22962730T>C NCBI36
NG_007884.1:g.16981A>G , LRG_384:g.16981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2965A>G MANE Select ENSP00000347507.3:p.Ile989Val
ENST00000355349.3:c.2965A>G ENSP00000347507.3:p.Ile989Val
NM_000257.3:c.2965A>G NP_000248.2:p.Ile989Val
XR_245686.3:n.3071A>G
XM_017021340.1:c.2965A>G XP_016876829.1:p.Ile989Val
NM_000257.4:c.2965A>G MANE Select NP_000248.2:p.Ile989Val