Canonical Allele Identifier: CA485620198
Gene: MYH7 HGNC NCBI

Linked Data

COSMIC: COSM5459764
MyVariant Identifiers: chr14:g.23888494G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419285G>T , CM000676.2:g.23419285G>T GRCh38
NC_000014.8:g.23888494G>T , CM000676.1:g.23888494G>T GRCh37
NC_000014.7:g.22958334G>T NCBI36
NG_007884.1:g.21377C>A , LRG_384:g.21377C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3864C>A MANE Select ENSP00000347507.3:p.Ser1288=
ENST00000355349.3:c.3864C>A ENSP00000347507.3:p.Ser1288=
NM_000257.3:c.3864C>A NP_000248.2:p.Ser1288=
XM_017021340.1:c.3864C>A XP_016876829.1:p.Ser1288=
NM_000257.4:c.3864C>A MANE Select NP_000248.2:p.Ser1288=
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