Canonical Allele Identifier: CA2842879862
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420934C>G , CM000676.2:g.23420934C>G GRCh38
NC_000014.8:g.23890143C>G , CM000676.1:g.23890143C>G GRCh37
NC_000014.7:g.22959983C>G NCBI36
NG_007884.1:g.19728G>C , LRG_384:g.19728G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+24G>C MANE Select ENSP00000347507.3:n.3336+24G>C
ENST00000355349.3:c.3336+24G>C ENSP00000347507.3:n.3336+24G>C
NM_000257.3:c.3336+24G>C NP_000248.2:n.3336+24G>C
XR_245686.3:n.3444+24G>C
XM_017021340.1:c.3336+24G>C XP_016876829.1:n.3336+24G>C
NM_000257.4:c.3336+24G>C MANE Select NP_000248.2:n.3336+24G>C
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