Canonical Allele Identifier: CA011047
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42854
ClinVar RCV Id: RCV000035735
dbSNP Id: rs397516115
ExAC: 14:23897074 C / T
gnomAD v2: 14-23897074-C-T
gnomAD v3: 14-23427865-C-T
gnomAD v4: 14-23427865-C-T
MyVariant Identifiers: chr14:g.23897074C>T (hg19) chr14:g.23427865C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427865C>T , CM000676.2:g.23427865C>T GRCh38
NC_000014.8:g.23897074C>T , CM000676.1:g.23897074C>T GRCh37
NC_000014.7:g.22966914C>T NCBI36
NG_007884.1:g.12797G>A , LRG_384:g.12797G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1608G>A MANE Select ENSP00000347507.3:p.Glu536=
ENST00000355349.3:c.1608G>A ENSP00000347507.3:p.Glu536=
NM_000257.3:c.1608G>A NP_000248.2:p.Glu536=
XR_245686.3:n.1714G>A
XM_017021340.1:c.1608G>A XP_016876829.1:p.Glu536=
NM_000257.4:c.1608G>A MANE Select NP_000248.2:p.Glu536=
Search 100 bp 5'
Search 100 bp 3'