Canonical Allele Identifier: CA16621655
Community Standard Title: NM_000257.4(MYH7):c.2443C>T (p.Gln815Ter)
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425005G>A , CM000676.2:g.23425005G>A GRCh38
NC_000014.8:g.23894214G>A , CM000676.1:g.23894214G>A GRCh37
NC_000014.7:g.22964054G>A NCBI36
NG_007884.1:g.15657C>T , LRG_384:g.15657C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.2443C>T MANE Select NP_000248.2:p.Gln815Ter
ENST00000355349.4:c.2443C>T MANE Select ENSP00000347507.3:p.Gln815Ter
NM_000257.3:c.2443C>T NP_000248.2:p.Gln815Ter
ENST00000355349.3:c.2443C>T ENSP00000347507.3:p.Gln815Ter
XM_017021340.1:c.2443C>T XP_016876829.1:p.Gln815Ter
XR_245686.3:n.2549C>T
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