Canonical Allele Identifier: CA015247
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 181264
ClinVar RCV Id: RCV000158668 RCV000628917 RCV001185243 RCV002336357
dbSNP Id: rs730880807
ExAC: 14:23885457 G / T
gnomAD v2: 14-23885457-G-T
gnomAD v3: 14-23416248-G-T
gnomAD v4: 14-23416248-G-T
COSMIC: COSM6140188
MyVariant Identifiers: chr14:g.23885457G>T (hg19) chr14:g.23416248G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416248G>T , CM000676.2:g.23416248G>T GRCh38
NC_000014.8:g.23885457G>T , CM000676.1:g.23885457G>T GRCh37
NC_000014.7:g.22955297G>T NCBI36
NG_007884.1:g.24414C>A , LRG_384:g.24414C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4709C>A (MYH7) MANE Select ENSP00000347507.3:p.Ala1570Glu
ENST00000355349.3:c.4709C>A (MYH7) ENSP00000347507.3:p.Ala1570Glu
NM_000257.3:c.4709C>A (MYH7) NP_000248.2:p.Ala1570Glu
NR_126491.1:n.509G>T (MHRT)
XM_017021340.1:c.4709C>A (MYH7) XP_016876829.1:p.Ala1570Glu
NM_000257.4:c.4709C>A (MYH7) MANE Select NP_000248.2:p.Ala1570Glu
Search 100 bp 5'
Search 100 bp 3'