Canonical Allele Identifier: CA035299
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 312903
ClinVar RCV Id: RCV000290926 RCV000320862 RCV000379421 RCV000378340 RCV000777729 RCV000489125 RCV001364427 RCV001729526 RCV002436162 RCV003320163
dbSNP Id: rs779973529
ExAC: 14:23892820 G / T
gnomAD v2: 14-23892820-G-T
gnomAD v4: 14-23423611-G-T
MyVariant Identifiers: chr14:g.23892820G>T (hg19) chr14:g.23423611G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423611G>T , CM000676.2:g.23423611G>T GRCh38
NC_000014.8:g.23892820G>T , CM000676.1:g.23892820G>T GRCh37
NC_000014.7:g.22962660G>T NCBI36
NG_007884.1:g.17051C>A , LRG_384:g.17051C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3035C>A MANE Select ENSP00000347507.3:p.Ala1012Asp
ENST00000355349.3:c.3035C>A ENSP00000347507.3:p.Ala1012Asp
NM_000257.3:c.3035C>A NP_000248.2:p.Ala1012Asp
XR_245686.3:n.3141C>A
XM_017021340.1:c.3035C>A XP_016876829.1:p.Ala1012Asp
NM_000257.4:c.3035C>A MANE Select NP_000248.2:p.Ala1012Asp
Search 100 bp 5'
Search 100 bp 3'