Canonical Allele Identifier: CA961074775
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892586004
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423927del , CM000676.2:g.23423927del GRCh38
NC_000014.8:g.23893136del , CM000676.1:g.23893136del GRCh37
NC_000014.7:g.22962976del NCBI36
NG_007884.1:g.16737del , LRG_384:g.16737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2904del MANE Select ENSP00000347507.3:p.Lys968AsnfsTer8
ENST00000355349.3:c.2904del ENSP00000347507.3:p.Lys968AsnfsTer8
NM_000257.3:c.2904del NP_000248.2:p.Lys968AsnfsTer8
XR_245686.3:n.3010del
XM_017021340.1:c.2904del XP_016876829.1:p.Lys968AsnfsTer8
NM_000257.4:c.2904del MANE Select NP_000248.2:p.Lys968AsnfsTer8
Search 100 bp 5'
Search 100 bp 3'