Canonical Allele Identifier: CA015524
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43049
ClinVar RCV Id: RCV000035943 RCV000148703 RCV001050756 RCV001184540 RCV001719728 RCV004018782
dbSNP Id: rs370328209
ExAC: 14:23885010 C / T
gnomAD v2: 14-23885010-C-T
gnomAD v3: 14-23415801-C-T
gnomAD v4: 14-23415801-C-T
MyVariant Identifiers: chr14:g.23885010C>T (hg19) chr14:g.23415801C>T (hg38)
PubMed: PMID:21750094 PMID:23233322 PMID:24664454
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415801C>T , CM000676.2:g.23415801C>T GRCh38
NC_000014.8:g.23885010C>T , CM000676.1:g.23885010C>T GRCh37
NC_000014.7:g.22954850C>T NCBI36
NG_007884.1:g.24861G>A , LRG_384:g.24861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4985G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1662His
ENST00000355349.3:c.4985G>A (MYH7) ENSP00000347507.3:p.Arg1662His
NM_000257.3:c.4985G>A (MYH7) NP_000248.2:p.Arg1662His
NR_126491.1:n.233C>T (MHRT)
XM_017021340.1:c.4985G>A (MYH7) XP_016876829.1:p.Arg1662His
NM_000257.4:c.4985G>A (MYH7) MANE Select NP_000248.2:p.Arg1662His
Search 100 bp 5'
Search 100 bp 3'