Canonical Allele Identifier: CA015292
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 181265
ClinVar RCV Id: RCV000619034 RCV000778015 RCV001211825 RCV002498788 RCV003133156
dbSNP Id: rs730880808
ExAC: 14:23885394 A / T
gnomAD v2: 14-23885394-A-T
gnomAD v3: 14-23416185-A-T
gnomAD v4: 14-23416185-A-T
COSMIC: COSM6075527
MyVariant Identifiers: chr14:g.23885394A>T (hg19) chr14:g.23416185A>T (hg38)
PubMed: PMID:23403236 PMID:25447171
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416185A>T , CM000676.2:g.23416185A>T GRCh38
NC_000014.8:g.23885394A>T , CM000676.1:g.23885394A>T GRCh37
NC_000014.7:g.22955234A>T NCBI36
NG_007884.1:g.24477T>A , LRG_384:g.24477T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4772T>A (MYH7) MANE Select ENSP00000347507.3:p.Leu1591Gln
ENST00000355349.3:c.4772T>A (MYH7) ENSP00000347507.3:p.Leu1591Gln
NM_000257.3:c.4772T>A (MYH7) NP_000248.2:p.Leu1591Gln
NR_126491.1:n.446A>T (MHRT)
XM_017021340.1:c.4772T>A (MYH7) XP_016876829.1:p.Leu1591Gln
NM_000257.4:c.4772T>A (MYH7) MANE Select NP_000248.2:p.Leu1591Gln
Search 100 bp 5'
Search 100 bp 3'