Canonical Allele Identifier: CA389040855
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 579879
ClinVar RCV Id: RCV000703267
dbSNP Id: rs1566526148
gnomAD v4: 14-23418254-A-T
MyVariant Identifiers: chr14:g.23887463A>T (hg19) chr14:g.23418254A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418254A>T , CM000676.2:g.23418254A>T GRCh38
NC_000014.8:g.23887463A>T , CM000676.1:g.23887463A>T GRCh37
NC_000014.7:g.22957303A>T NCBI36
NG_007884.1:g.22408T>A , LRG_384:g.22408T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4125T>A MANE Select ENSP00000347507.3:p.Tyr1375Ter
ENST00000355349.3:c.4125T>A ENSP00000347507.3:p.Tyr1375Ter
NM_000257.3:c.4125T>A NP_000248.2:p.Tyr1375Ter
XM_017021340.1:c.4125T>A XP_016876829.1:p.Tyr1375Ter
NM_000257.4:c.4125T>A MANE Select NP_000248.2:p.Tyr1375Ter
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