Canonical Allele Identifier: CA041432
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 379046
ClinVar RCV Id: RCV001184550 RCV001446105 RCV000439936 RCV003362781
dbSNP Id: rs57680382
ExAC: 14:23886790 G / T
gnomAD v2: 14-23886790-G-T
gnomAD v3: 14-23417581-G-T
gnomAD v4: 14-23417581-G-T
MyVariant Identifiers: chr14:g.23886790G>T (hg19) chr14:g.23417581G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417581G>T , CM000676.2:g.23417581G>T GRCh38
NC_000014.8:g.23886790G>T , CM000676.1:g.23886790G>T GRCh37
NC_000014.7:g.22956630G>T NCBI36
NG_007884.1:g.23081C>A , LRG_384:g.23081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4275C>A (MYH7) MANE Select ENSP00000347507.3:p.Ile1425=
ENST00000355349.3:c.4275C>A (MYH7) ENSP00000347507.3:p.Ile1425=
NM_000257.3:c.4275C>A (MYH7) NP_000248.2:p.Ile1425=
NR_126491.1:n.862G>T (MHRT)
XM_017021340.1:c.4275C>A (MYH7) XP_016876829.1:p.Ile1425=
NM_000257.4:c.4275C>A (MYH7) MANE Select NP_000248.2:p.Ile1425=
Search 100 bp 5'
Search 100 bp 3'