Canonical Allele Identifier: CA704270764
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1094670
ClinVar RCV Id: RCV001415254 RCV001528234
dbSNP Id: rs1423323663
gnomAD v3: 14-23433524-A-T
gnomAD v4: 14-23433524-A-T
MyVariant Identifiers: chr14:g.23902733A>T (hg19) chr14:g.23433524A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433524A>T , CM000676.2:g.23433524A>T GRCh38
NC_000014.8:g.23902733A>T , CM000676.1:g.23902733A>T GRCh37
NC_000014.7:g.22972573A>T NCBI36
NG_007884.1:g.7138T>A , LRG_384:g.7138T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.201+8T>A MANE Select ENSP00000347507.3:n.201+8T>A
ENST00000355349.3:c.201+8T>A ENSP00000347507.3:n.201+8T>A
NM_000257.3:c.201+8T>A NP_000248.2:n.201+8T>A
XR_245686.3:n.307+8T>A
XM_017021340.1:c.201+8T>A XP_016876829.1:n.201+8T>A
NM_000257.4:c.201+8T>A MANE Select NP_000248.2:n.201+8T>A
Search 100 bp 5'
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