Canonical Allele Identifier: CA047040
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2625313
ClinVar RCV Id: RCV003380072 RCV003748491
dbSNP Id: rs767130951
ExAC: 14:23884257 ACT / A
gnomAD v3: 14-23415048-ACT-A
gnomAD v4: 14-23415048-ACT-A
MyVariant Identifiers: chr14:g.23884258_23884259del (hg19) chr14:g.23415050_23415051del (hg38) chr14:g.23415049_23415050del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415051_23415052del , CM000676.2:g.23415051_23415052del GRCh38
NC_000014.8:g.23884260_23884261del , CM000676.1:g.23884260_23884261del GRCh37
NC_000014.7:g.22954100_22954101del NCBI36
NG_007884.1:g.25612_25613del , LRG_384:g.25612_25613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5504_5505del MANE Select ENSP00000347507.3:p.Glu1835ValfsTer?
ENST00000355349.3:c.5504_5505del ENSP00000347507.3:p.Glu1835ValfsTer?
NM_000257.3:c.5504_5505del NP_000248.2:p.Glu1835ValfsTer?
XM_017021340.1:c.5504_5505del XP_016876829.1:p.Glu1835ValfsTer?
NM_000257.4:c.5504_5505del MANE Select NP_000248.2:p.Glu1835ValfsTer?
Search 100 bp 5'
Search 100 bp 3'