Canonical Allele Identifier: CA257827117
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs35186912
MyVariant Identifiers: chr14:g.23903258del (hg19) chr14:g.23434049del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434049del , CM000676.2:g.23434049del GRCh38
NC_000014.8:g.23903258del , CM000676.1:g.23903258del GRCh37
NC_000014.7:g.22973098del NCBI36
NG_007884.1:g.6613del , LRG_384:g.6613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+145del MANE Select ENSP00000347507.3:n.-9+145del
ENST00000355349.3:c.-9+145del ENSP00000347507.3:n.-9+145del
NM_000257.3:c.-9+145del NP_000248.2:n.-9+145del
XR_245686.3:n.98+145del
XM_017021340.1:c.-8-309del XP_016876829.1:n.-8-309del
NM_000257.4:c.-9+145del MANE Select NP_000248.2:n.-9+145del
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