Canonical Allele Identifier: CA485766938
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs768399986
MyVariant Identifiers: chr14:g.23894952G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425743G>C , CM000676.2:g.23425743G>C GRCh38
NC_000014.8:g.23894952G>C , CM000676.1:g.23894952G>C GRCh37
NC_000014.7:g.22964792G>C NCBI36
NG_007884.1:g.14919C>G , LRG_384:g.14919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2238C>G MANE Select ENSP00000347507.3:p.Leu746=
ENST00000355349.3:c.2238C>G ENSP00000347507.3:p.Leu746=
NM_000257.3:c.2238C>G NP_000248.2:p.Leu746=
XR_245686.3:n.2344C>G
XM_017021340.1:c.2238C>G XP_016876829.1:p.Leu746=
NM_000257.4:c.2238C>G MANE Select NP_000248.2:p.Leu746=
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