Canonical Allele Identifier: CA015224
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 181262
ClinVar RCV Id: RCV000158666 RCV000628848 RCV000766461 RCV000778009 RCV002326904 RCV002492626
dbSNP Id: rs730880806
ExAC: 14:23885487 C / T
gnomAD v2: 14-23885487-C-T
gnomAD v3: 14-23416278-C-T
gnomAD v4: 14-23416278-C-T
MyVariant Identifiers: chr14:g.23885487C>T (hg19) chr14:g.23416278C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416278C>T , CM000676.2:g.23416278C>T GRCh38
NC_000014.8:g.23885487C>T , CM000676.1:g.23885487C>T GRCh37
NC_000014.7:g.22955327C>T NCBI36
NG_007884.1:g.24384G>A , LRG_384:g.24384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4679G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1560Gln
ENST00000355349.3:c.4679G>A (MYH7) ENSP00000347507.3:p.Arg1560Gln
NM_000257.3:c.4679G>A (MYH7) NP_000248.2:p.Arg1560Gln
NR_126491.1:n.539C>T (MHRT)
XM_017021340.1:c.4679G>A (MYH7) XP_016876829.1:p.Arg1560Gln
NM_000257.4:c.4679G>A (MYH7) MANE Select NP_000248.2:p.Arg1560Gln
Search 100 bp 5'
Search 100 bp 3'