Canonical Allele Identifier: CA048076
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 263705
ClinVar RCV Id: RCV000242734 RCV000867582 RCV001180365
dbSNP Id: rs761750159
ExAC: 14:23883031 C / T
gnomAD v2: 14-23883031-C-T
gnomAD v3: 14-23413822-C-T
gnomAD v4: 14-23413822-C-T
MyVariant Identifiers: chr14:g.23883031C>T (hg19) chr14:g.23413822C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413822C>T , CM000676.2:g.23413822C>T GRCh38
NC_000014.8:g.23883031C>T , CM000676.1:g.23883031C>T GRCh37
NC_000014.7:g.22952871C>T NCBI36
NG_007884.1:g.26840G>A , LRG_384:g.26840G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5727G>A MANE Select ENSP00000347507.3:p.Arg1909=
ENST00000355349.3:c.5727G>A ENSP00000347507.3:p.Arg1909=
NM_000257.3:c.5727G>A NP_000248.2:p.Arg1909=
XM_017021340.1:c.5727G>A XP_016876829.1:p.Arg1909=
NM_000257.4:c.5727G>A MANE Select NP_000248.2:p.Arg1909=
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Search 100 bp 3'