Canonical Allele Identifier: CA015727
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 36642
ClinVar RCV Id: RCV000030320 RCV000223711 RCV000199234 RCV000586653 RCV001170487 RCV000995812 RCV001251032 RCV002504832
dbSNP Id: rs193922390
ExAC: 14:23884860 C / T
gnomAD v2: 14-23884860-C-T
gnomAD v3: 14-23415651-C-T
gnomAD v4: 14-23415651-C-T
MyVariant Identifiers: chr14:g.23884860C>T (hg19) chr14:g.23415651C>T (hg38)
ERepo: CA015727/MONDO:0005045/002
PubMed: PMID:15483641 PMID:18403758 PMID:20298698 PMID:21511876 PMID:23054336 PMID:23074333 PMID:23785128 PMID:24510615 PMID:24835277 PMID:25351510 PMID:27247418 PMID:27532257 PMID:27688314 PMID:28193612 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415651C>T , CM000676.2:g.23415651C>T GRCh38
NC_000014.8:g.23884860C>T , CM000676.1:g.23884860C>T GRCh37
NC_000014.7:g.22954700C>T NCBI36
NG_007884.1:g.25011G>A , LRG_384:g.25011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5135G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1712Gln
ENST00000355349.3:c.5135G>A (MYH7) ENSP00000347507.3:p.Arg1712Gln
NM_000257.3:c.5135G>A (MYH7) NP_000248.2:p.Arg1712Gln
NR_126491.1:n.83C>T (MHRT)
XM_017021340.1:c.5135G>A (MYH7) XP_016876829.1:p.Arg1712Gln
NM_000257.4:c.5135G>A (MYH7) MANE Select NP_000248.2:p.Arg1712Gln
Search 100 bp 5'
Search 100 bp 3'