Canonical Allele Identifier: CA2580088022
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1933264
ClinVar RCV Id: RCV002635902
gnomAD v4: 14-23427580-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427580C>T , CM000676.2:g.23427580C>T GRCh38
NC_000014.8:g.23896789C>T , CM000676.1:g.23896789C>T GRCh37
NC_000014.7:g.22966629C>T NCBI36
NG_007884.1:g.13082G>A , LRG_384:g.13082G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1888+5G>A MANE Select ENSP00000347507.3:n.1888+5G>A
ENST00000355349.3:c.1888+5G>A ENSP00000347507.3:n.1888+5G>A
NM_000257.3:c.1888+5G>A NP_000248.2:n.1888+5G>A
XR_245686.3:n.1994+5G>A
XM_017021340.1:c.1888+5G>A XP_016876829.1:n.1888+5G>A
NM_000257.4:c.1888+5G>A MANE Select NP_000248.2:n.1888+5G>A
Search 100 bp 5'
Search 100 bp 3'