Canonical Allele Identifier: CA704280521
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1159802244
gnomAD v3: 14-23413684-TC-T
gnomAD v4: 14-23413684-TC-T
MyVariant Identifiers: chr14:g.23882894del (hg19) chr14:g.23413685del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413687del , CM000676.2:g.23413687del GRCh38
NC_000014.8:g.23882896del , CM000676.1:g.23882896del GRCh37
NC_000014.7:g.22952736del NCBI36
NG_007884.1:g.26977del , LRG_384:g.26977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+74del MANE Select ENSP00000347507.3:n.5790+74del
ENST00000355349.3:c.5790+74del ENSP00000347507.3:n.5790+74del
NM_000257.3:c.5790+74del NP_000248.2:n.5790+74del
XM_017021340.1:c.5790+74del XP_016876829.1:n.5790+74del
NM_000257.4:c.5790+74del MANE Select NP_000248.2:n.5790+74del
Search 100 bp 5'
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