Canonical Allele Identifier: CA389037958
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 838150
ClinVar RCV Id: RCV001039638 RCV001799031 RCV002481873
dbSNP Id: rs730880804
gnomAD v4: 14-23416869-T-A
MyVariant Identifiers: chr14:g.23886078T>A (hg19) chr14:g.23416869T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416869T>A , CM000676.2:g.23416869T>A GRCh38
NC_000014.8:g.23886078T>A , CM000676.1:g.23886078T>A GRCh37
NC_000014.7:g.22955918T>A NCBI36
NG_007884.1:g.23793A>T , LRG_384:g.23793A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4643A>T (MYH7) MANE Select ENSP00000347507.3:p.Glu1548Val
ENST00000355349.3:c.4643A>T (MYH7) ENSP00000347507.3:p.Glu1548Val
NM_000257.3:c.4643A>T (MYH7) NP_000248.2:p.Glu1548Val
NR_126491.1:n.559-47T>A (MHRT)
XM_017021340.1:c.4643A>T (MYH7) XP_016876829.1:p.Glu1548Val
NM_000257.4:c.4643A>T (MYH7) MANE Select NP_000248.2:p.Glu1548Val
Search 100 bp 5'
Search 100 bp 3'