Canonical Allele Identifier: CA16042848
Community Standard Title: NM_000257.4(MYH7):c.3991C>G (p.His1331Asp)
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418388G>C , CM000676.2:g.23418388G>C GRCh38
NC_000014.8:g.23887597G>C , CM000676.1:g.23887597G>C GRCh37
NC_000014.7:g.22957437G>C NCBI36
NG_007884.1:g.22274C>G , LRG_384:g.22274C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.3991C>G MANE Select NP_000248.2:p.His1331Asp
ENST00000355349.4:c.3991C>G MANE Select ENSP00000347507.3:p.His1331Asp
NM_000257.3:c.3991C>G NP_000248.2:p.His1331Asp
ENST00000355349.3:c.3991C>G ENSP00000347507.3:p.His1331Asp
XM_017021340.1:c.3991C>G XP_016876829.1:p.His1331Asp
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