Canonical Allele Identifier: CA014652
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42999
ClinVar RCV Id: RCV000198818 RCV000766458 RCV000771884 RCV002466419 RCV003298055 RCV004017301
dbSNP Id: rs371552806
ExAC: 14:23886855 C / T
gnomAD v2: 14-23886855-C-T
gnomAD v3: 14-23417646-C-T
gnomAD v4: 14-23417646-C-T
MyVariant Identifiers: chr14:g.23886855C>T (hg19) chr14:g.23417646C>T (hg38)
ERepo: CA014652/MONDO:0005045/002
PubMed: PMID:24215330 PMID:25132132
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417646C>T , CM000676.2:g.23417646C>T GRCh38
NC_000014.8:g.23886855C>T , CM000676.1:g.23886855C>T GRCh37
NC_000014.7:g.22956695C>T NCBI36
NG_007884.1:g.23016G>A , LRG_384:g.23016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4210G>A MANE Select ENSP00000347507.3:p.Val1404Met
ENST00000355349.3:c.4210G>A ENSP00000347507.3:p.Val1404Met
NM_000257.3:c.4210G>A NP_000248.2:p.Val1404Met
XM_017021340.1:c.4210G>A XP_016876829.1:p.Val1404Met
NM_000257.4:c.4210G>A MANE Select NP_000248.2:p.Val1404Met
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