Canonical Allele Identifier: CA389050395
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v3: 14-23428552-G-A
gnomAD v4: 14-23428552-G-A
MyVariant Identifiers: chr14:g.23897761G>A (hg19) chr14:g.23428552G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428552G>A , CM000676.2:g.23428552G>A GRCh38
NC_000014.8:g.23897761G>A , CM000676.1:g.23897761G>A GRCh37
NC_000014.7:g.22967601G>A NCBI36
NG_007884.1:g.12110C>T , LRG_384:g.12110C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1526C>T MANE Select ENSP00000347507.3:p.Thr509Ile
ENST00000355349.3:c.1526C>T ENSP00000347507.3:p.Thr509Ile
NM_000257.3:c.1526C>T NP_000248.2:p.Thr509Ile
XR_245686.3:n.1632C>T
XM_017021340.1:c.1526C>T XP_016876829.1:p.Thr509Ile
NM_000257.4:c.1526C>T MANE Select NP_000248.2:p.Thr509Ile
Search 100 bp 5'
Search 100 bp 3'