Canonical Allele Identifier: CA014743
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43005
ClinVar RCV Id: RCV000035899 RCV000629028 RCV000417392 RCV000589082 RCV000790631 RCV000758069
dbSNP Id: rs397516208
COSMIC: COSM245864
MyVariant Identifiers: chr14:g.23886789C>T (hg19) chr14:g.23417580C>T (hg38)
ERepo: CA014743/MONDO:0005021/002
PubMed: PMID:15769782 PMID:16416045 PMID:18555187 PMID:21482996 PMID:22610119 PMID:23302633 PMID:24474197 PMID:27532257 PMID:29093449 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417580C>T , CM000676.2:g.23417580C>T GRCh38
NC_000014.8:g.23886789C>T , CM000676.1:g.23886789C>T GRCh37
NC_000014.7:g.22956629C>T NCBI36
NG_007884.1:g.23082G>A , LRG_384:g.23082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4276G>A (MYH7) MANE Select ENSP00000347507.3:p.Glu1426Lys
ENST00000355349.3:c.4276G>A (MYH7) ENSP00000347507.3:p.Glu1426Lys
NM_000257.3:c.4276G>A (MYH7) NP_000248.2:p.Glu1426Lys
NR_126491.1:n.861C>T (MHRT)
XM_017021340.1:c.4276G>A (MYH7) XP_016876829.1:p.Glu1426Lys
NM_000257.4:c.4276G>A (MYH7) MANE Select NP_000248.2:p.Glu1426Lys
Search 100 bp 5'
Search 100 bp 3'