Canonical Allele Identifier: CA038963
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 228909
ClinVar RCV Id: RCV001062631 RCV001191614 RCV003233499 RCV002354609
dbSNP Id: rs759231966
ExAC: 14:23902905 C / T
gnomAD v2: 14-23902905-C-T
gnomAD v3: 14-23433696-C-T
gnomAD v4: 14-23433696-C-T
COSMIC: COSM1216234
MyVariant Identifiers: chr14:g.23902905C>T (hg19) chr14:g.23433696C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433696C>T , CM000676.2:g.23433696C>T GRCh38
NC_000014.8:g.23902905C>T , CM000676.1:g.23902905C>T GRCh37
NC_000014.7:g.22972745C>T NCBI36
NG_007884.1:g.6966G>A , LRG_384:g.6966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.37G>A MANE Select ENSP00000347507.3:p.Ala13Thr
ENST00000355349.3:c.37G>A ENSP00000347507.3:p.Ala13Thr
NM_000257.3:c.37G>A NP_000248.2:p.Ala13Thr
XR_245686.3:n.143G>A
XM_017021340.1:c.37G>A XP_016876829.1:p.Ala13Thr
NM_000257.4:c.37G>A MANE Select NP_000248.2:p.Ala13Thr
Search 100 bp 5'
Search 100 bp 3'