Canonical Allele Identifier: CA047796
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490943
ClinVar RCV Id: RCV001986169
dbSNP Id: rs770065133
ExAC: 14:23883120 A / T
gnomAD v2: 14-23883120-A-T
gnomAD v3: 14-23413911-A-T
gnomAD v4: 14-23413911-A-T
MyVariant Identifiers: chr14:g.23883120A>T (hg19) chr14:g.23413911A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413911A>T , CM000676.2:g.23413911A>T GRCh38
NC_000014.8:g.23883120A>T , CM000676.1:g.23883120A>T GRCh37
NC_000014.7:g.22952960A>T NCBI36
NG_007884.1:g.26751T>A , LRG_384:g.26751T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5656-18T>A MANE Select ENSP00000347507.3:n.5656-18T>A
ENST00000355349.3:c.5656-18T>A ENSP00000347507.3:n.5656-18T>A
NM_000257.3:c.5656-18T>A NP_000248.2:n.5656-18T>A
XM_017021340.1:c.5656-18T>A XP_016876829.1:n.5656-18T>A
NM_000257.4:c.5656-18T>A MANE Select NP_000248.2:n.5656-18T>A
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