Canonical Allele Identifier: CA613317794
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1236982439
gnomAD v2: 14-23901033-GA-G
MyVariant Identifiers: chr14:g.23901034del (hg19) chr14:g.23431825del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431825del , CM000676.2:g.23431825del GRCh38
NC_000014.8:g.23901034del , CM000676.1:g.23901034del GRCh37
NC_000014.7:g.22970874del NCBI36
NG_007884.1:g.8837del , LRG_384:g.8837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.575del MANE Select ENSP00000347507.3:p.Ile192ThrfsTer?
ENST00000355349.3:c.575del ENSP00000347507.3:p.Ile192ThrfsTer?
NM_000257.3:c.575del NP_000248.2:p.Ile192ThrfsTer?
XR_245686.3:n.681del
XM_017021340.1:c.575del XP_016876829.1:p.Ile192ThrfsTer?
NM_000257.4:c.575del MANE Select NP_000248.2:p.Ile192ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'