Canonical Allele Identifier: CA704269534
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1228055405
gnomAD v3: 14-23431843-ACTGT-A
gnomAD v4: 14-23431843-ACTGT-A
MyVariant Identifiers: chr14:g.23901053_23901056del (hg19) chr14:g.23431844_23431847del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431846_23431849del , CM000676.2:g.23431846_23431849del GRCh38
NC_000014.8:g.23901055_23901058del , CM000676.1:g.23901055_23901058del GRCh37
NC_000014.7:g.22970895_22970898del NCBI36
NG_007884.1:g.8815_8818del , LRG_384:g.8815_8818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.553_556del MANE Select ENSP00000347507.3:p.Thr185SerfsTer?
ENST00000355349.3:c.553_556del ENSP00000347507.3:p.Thr185SerfsTer?
NM_000257.3:c.553_556del NP_000248.2:p.Thr185SerfsTer?
XR_245686.3:n.659_662del
XM_017021340.1:c.553_556del XP_016876829.1:p.Thr185SerfsTer?
NM_000257.4:c.553_556del MANE Select NP_000248.2:p.Thr185SerfsTer?
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