Canonical Allele Identifier: CA2573149860
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398181
ClinVar RCV Id: RCV001922507
dbSNP Id: rs2138675116
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428990dup , CM000676.2:g.23428990dup GRCh38
NC_000014.8:g.23898199dup , CM000676.1:g.23898199dup GRCh37
NC_000014.7:g.22968039dup NCBI36
NG_007884.1:g.11673dup , LRG_384:g.11673dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1373dup MANE Select ENSP00000347507.3:p.Val459SerfsTer16
ENST00000355349.3:c.1373dup ENSP00000347507.3:p.Val459SerfsTer16
NM_000257.3:c.1373dup NP_000248.2:p.Val459SerfsTer16
XR_245686.3:n.1479dup
XM_017021340.1:c.1373dup XP_016876829.1:p.Val459SerfsTer16
NM_000257.4:c.1373dup MANE Select NP_000248.2:p.Val459SerfsTer16
Search 100 bp 5'
Search 100 bp 3'