Canonical Allele Identifier: CA485616117
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs200921000
MyVariant Identifiers: chr14:g.23883019G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413810G>T , CM000676.2:g.23413810G>T GRCh38
NC_000014.8:g.23883019G>T , CM000676.1:g.23883019G>T GRCh37
NC_000014.7:g.22952859G>T NCBI36
NG_007884.1:g.26852C>A , LRG_384:g.26852C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5739C>A MANE Select ENSP00000347507.3:p.Ala1913=
ENST00000355349.3:c.5739C>A ENSP00000347507.3:p.Ala1913=
NM_000257.3:c.5739C>A NP_000248.2:p.Ala1913=
XM_017021340.1:c.5739C>A XP_016876829.1:p.Ala1913=
NM_000257.4:c.5739C>A MANE Select NP_000248.2:p.Ala1913=
Search 100 bp 5'
Search 100 bp 3'