Canonical Allele Identifier: CA389035519
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 978750
ClinVar RCV Id: RCV001293163
dbSNP Id: rs1892134324
MyVariant Identifiers: chr14:g.23884350G>T (hg19) chr14:g.23415141G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415141G>T , CM000676.2:g.23415141G>T GRCh38
NC_000014.8:g.23884350G>T , CM000676.1:g.23884350G>T GRCh37
NC_000014.7:g.22954190G>T NCBI36
NG_007884.1:g.25521C>A , LRG_384:g.25521C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5413C>A MANE Select ENSP00000347507.3:p.Leu1805Ile
ENST00000355349.3:c.5413C>A ENSP00000347507.3:p.Leu1805Ile
NM_000257.3:c.5413C>A NP_000248.2:p.Leu1805Ile
XM_017021340.1:c.5413C>A XP_016876829.1:p.Leu1805Ile
NM_000257.4:c.5413C>A MANE Select NP_000248.2:p.Leu1805Ile
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