Canonical Allele Identifier: CA174959
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 162028
ClinVar RCV Id: RCV000149449
dbSNP Id: rs672601321
MyVariant Identifiers: chr14:g.23896880dupA (hg19) chr14:g.23896879_23896880insA (hg19) chr14:g.23427671dupA (hg38) chr14:g.23427670_23427671insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427671dup , CM000676.2:g.23427671dup GRCh38
NC_000014.8:g.23896880dup , CM000676.1:g.23896880dup GRCh37
NC_000014.7:g.22966720dup NCBI36
NG_007884.1:g.12991dup , LRG_384:g.12991dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1802dup MANE Select ENSP00000347507.3:p.Asn602GlnfsTer2
ENST00000355349.3:c.1802dup ENSP00000347507.3:p.Asn602GlnfsTer2
NM_000257.3:c.1802dup NP_000248.2:p.Asn602GlnfsTer2
XR_245686.3:n.1908dup
XM_017021340.1:c.1802dup XP_016876829.1:p.Asn602GlnfsTer2
NM_000257.4:c.1802dup MANE Select NP_000248.2:p.Asn602GlnfsTer2
Search 100 bp 5'
Search 100 bp 3'