Canonical Allele Identifier: CA2123452885
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074311
ClinVar RCV Id: RCV004012853
dbSNP Id: rs1892960004
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431862_23431867dup , CM000676.2:g.23431862_23431867dup GRCh38
NC_000014.8:g.23901071_23901076dup , CM000676.1:g.23901071_23901076dup GRCh37
NC_000014.7:g.22970911_22970916dup NCBI36
NG_007884.1:g.8795_8800dup , LRG_384:g.8795_8800dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.533_538dup MANE Select ENSP00000347507.3:p.Ser180Ter
ENST00000355349.3:c.533_538dup ENSP00000347507.3:p.Ser180Ter
NM_000257.3:c.533_538dup NP_000248.2:p.Ser180Ter
XR_245686.3:n.639_644dup
XM_017021340.1:c.533_538dup XP_016876829.1:p.Ser180Ter
NM_000257.4:c.533_538dup MANE Select NP_000248.2:p.Ser180Ter
Search 100 bp 5'
Search 100 bp 3'