Canonical Allele Identifier: CA2123452817
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1377106384
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423440C>T , CM000676.2:g.23423440C>T GRCh38
NC_000014.8:g.23892649C>T , CM000676.1:g.23892649C>T GRCh37
NC_000014.7:g.22962489C>T NCBI36
NG_007884.1:g.17222G>A , LRG_384:g.17222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+107G>A MANE Select ENSP00000347507.3:n.3099+107G>A
ENST00000355349.3:c.3099+107G>A ENSP00000347507.3:n.3099+107G>A
NM_000257.3:c.3099+107G>A NP_000248.2:n.3099+107G>A
XR_245686.3:n.3205+107G>A
XM_017021340.1:c.3099+107G>A XP_016876829.1:n.3099+107G>A
NM_000257.4:c.3099+107G>A MANE Select NP_000248.2:n.3099+107G>A
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