Canonical Allele Identifier: CA389052521
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23901043T>A (hg19) chr14:g.23431834T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431834T>A , CM000676.2:g.23431834T>A GRCh38
NC_000014.8:g.23901043T>A , CM000676.1:g.23901043T>A GRCh37
NC_000014.7:g.22970883T>A NCBI36
NG_007884.1:g.8828A>T , LRG_384:g.8828A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.566A>T MANE Select ENSP00000347507.3:p.Lys189Met
ENST00000355349.3:c.566A>T ENSP00000347507.3:p.Lys189Met
NM_000257.3:c.566A>T NP_000248.2:p.Lys189Met
XR_245686.3:n.672A>T
XM_017021340.1:c.566A>T XP_016876829.1:p.Lys189Met
NM_000257.4:c.566A>T MANE Select NP_000248.2:p.Lys189Met
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