Canonical Allele Identifier: CA016134
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 161322
ClinVar RCV Id: RCV000148701 RCV000466702 RCV000478825 RCV001177578 RCV002345457 RCV002492544 RCV003335132
dbSNP Id: rs201865159
ExAC: 14:23884269 G / A
gnomAD v2: 14-23884269-G-A
gnomAD v3: 14-23415060-G-A
gnomAD v4: 14-23415060-G-A
MyVariant Identifiers: chr14:g.23884269G>A (hg19) chr14:g.23415060G>A (hg38)
PubMed: PMID:23861362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415060G>A , CM000676.2:g.23415060G>A GRCh38
NC_000014.8:g.23884269G>A , CM000676.1:g.23884269G>A GRCh37
NC_000014.7:g.22954109G>A NCBI36
NG_007884.1:g.25602C>T , LRG_384:g.25602C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5494C>T MANE Select ENSP00000347507.3:p.Arg1832Cys
ENST00000355349.3:c.5494C>T ENSP00000347507.3:p.Arg1832Cys
NM_000257.3:c.5494C>T NP_000248.2:p.Arg1832Cys
XM_017021340.1:c.5494C>T XP_016876829.1:p.Arg1832Cys
NM_000257.4:c.5494C>T MANE Select NP_000248.2:p.Arg1832Cys
Search 100 bp 5'
Search 100 bp 3'