Canonical Allele Identifier: CA10604064
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 282079
ClinVar RCV Id: RCV000403868 RCV000629053
dbSNP Id: rs886042307
gnomAD v4: 14-23413900-G-GA
MyVariant Identifiers: chr14:g.23883110dupA (hg19) chr14:g.23413901dupA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413901dup , CM000676.2:g.23413901dup GRCh38
NC_000014.8:g.23883110dup , CM000676.1:g.23883110dup GRCh37
NC_000014.7:g.22952950dup NCBI36
NG_007884.1:g.26761dup , LRG_384:g.26761dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5656-8dup MANE Select ENSP00000347507.3:n.5656-8dup
ENST00000355349.3:c.5656-8dup ENSP00000347507.3:n.5656-8dup
NM_000257.3:c.5656-8dup NP_000248.2:n.5656-8dup
XM_017021340.1:c.5656-8dup XP_016876829.1:n.5656-8dup
NM_000257.4:c.5656-8dup MANE Select NP_000248.2:n.5656-8dup
Search 100 bp 5'
Search 100 bp 3'