Canonical Allele Identifier: CA2123452784
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1398266163
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431835dup , CM000676.2:g.23431835dup GRCh38
NC_000014.8:g.23901044dup , CM000676.1:g.23901044dup GRCh37
NC_000014.7:g.22970884dup NCBI36
NG_007884.1:g.8828dup , LRG_384:g.8828dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.566dup MANE Select ENSP00000347507.3:p.Arg190GlufsTer?
ENST00000355349.3:c.566dup ENSP00000347507.3:p.Arg190GlufsTer?
NM_000257.3:c.566dup NP_000248.2:p.Arg190GlufsTer?
XR_245686.3:n.672dup
XM_017021340.1:c.566dup XP_016876829.1:p.Arg190GlufsTer?
NM_000257.4:c.566dup MANE Select NP_000248.2:p.Arg190GlufsTer?
Search 100 bp 5'
Search 100 bp 3'