Canonical Allele Identifier: CA704269142
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1468915866
gnomAD v3: 14-23431164-CAGA-C
gnomAD v4: 14-23431164-CAGA-C
MyVariant Identifiers: chr14:g.23900374_23900376del (hg19) chr14:g.23431165_23431167del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431167_23431169del , CM000676.2:g.23431167_23431169del GRCh38
NC_000014.8:g.23900376_23900378del , CM000676.1:g.23900376_23900378del GRCh37
NC_000014.7:g.22970216_22970218del NCBI36
NG_007884.1:g.9495_9497del , LRG_384:g.9495_9497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.797-168_797-166del MANE Select ENSP00000347507.3:n.797-168_797-166del
ENST00000355349.3:c.797-168_797-166del ENSP00000347507.3:n.797-168_797-166del
NM_000257.3:c.797-168_797-166del NP_000248.2:n.797-168_797-166del
XR_245686.3:n.903-168_903-166del
XM_017021340.1:c.797-168_797-166del XP_016876829.1:n.797-168_797-166del
NM_000257.4:c.797-168_797-166del MANE Select NP_000248.2:n.797-168_797-166del
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