Canonical Allele Identifier: CA10577510
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 234643
ClinVar RCV Id: RCV000223475 RCV001191616 RCV003748210
dbSNP Id: rs876661135
MyVariant Identifiers: chr14:g.23901037A>T (hg19) chr14:g.23431828A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431828A>T , CM000676.2:g.23431828A>T GRCh38
NC_000014.8:g.23901037A>T , CM000676.1:g.23901037A>T GRCh37
NC_000014.7:g.22970877A>T NCBI36
NG_007884.1:g.8834T>A , LRG_384:g.8834T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.572T>A MANE Select ENSP00000347507.3:p.Val191Asp
ENST00000355349.3:c.572T>A ENSP00000347507.3:p.Val191Asp
NM_000257.3:c.572T>A NP_000248.2:p.Val191Asp
XR_245686.3:n.678T>A
XM_017021340.1:c.572T>A XP_016876829.1:p.Val191Asp
NM_000257.4:c.572T>A MANE Select NP_000248.2:p.Val191Asp
Search 100 bp 5'
Search 100 bp 3'