Canonical Allele Identifier: CA389046405
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423684T>G , CM000676.2:g.23423684T>G GRCh38
NC_000014.8:g.23892893T>G , CM000676.1:g.23892893T>G GRCh37
NC_000014.7:g.22962733T>G NCBI36
NG_007884.1:g.16978A>C , LRG_384:g.16978A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2962A>C MANE Select ENSP00000347507.3:p.Ile988Leu
ENST00000355349.3:c.2962A>C ENSP00000347507.3:p.Ile988Leu
NM_000257.3:c.2962A>C NP_000248.2:p.Ile988Leu
XR_245686.3:n.3068A>C
XM_017021340.1:c.2962A>C XP_016876829.1:p.Ile988Leu
NM_000257.4:c.2962A>C MANE Select NP_000248.2:p.Ile988Leu