Canonical Allele Identifier: CA961067583
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1982419
ClinVar RCV Id: RCV002795028
dbSNP Id: rs1892078964
gnomAD v3: 14-23413990-C-T
gnomAD v4: 14-23413990-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413990C>T , CM000676.2:g.23413990C>T GRCh38
NC_000014.8:g.23883199C>T , CM000676.1:g.23883199C>T GRCh37
NC_000014.7:g.22953039C>T NCBI36
NG_007884.1:g.26672G>A , LRG_384:g.26672G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5655+17G>A MANE Select ENSP00000347507.3:n.5655+17G>A
ENST00000355349.3:c.5655+17G>A ENSP00000347507.3:n.5655+17G>A
NM_000257.3:c.5655+17G>A NP_000248.2:n.5655+17G>A
XM_017021340.1:c.5655+17G>A XP_016876829.1:n.5655+17G>A
NM_000257.4:c.5655+17G>A MANE Select NP_000248.2:n.5655+17G>A
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