Canonical Allele Identifier: CA2624235530
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423452-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423452C>G , CM000676.2:g.23423452C>G GRCh38
NC_000014.8:g.23892661C>G , CM000676.1:g.23892661C>G GRCh37
NC_000014.7:g.22962501C>G NCBI36
NG_007884.1:g.17210G>C , LRG_384:g.17210G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+95G>C MANE Select ENSP00000347507.3:n.3099+95G>C
ENST00000355349.3:c.3099+95G>C ENSP00000347507.3:n.3099+95G>C
NM_000257.3:c.3099+95G>C NP_000248.2:n.3099+95G>C
XR_245686.3:n.3205+95G>C
XM_017021340.1:c.3099+95G>C XP_016876829.1:n.3099+95G>C
NM_000257.4:c.3099+95G>C MANE Select NP_000248.2:n.3099+95G>C
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