Canonical Allele Identifier: CA485627161
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579990
ClinVar RCV Id: RCV002094700
dbSNP Id: rs746119986
gnomAD v3: 14-23433655-C-A
gnomAD v4: 14-23433655-C-A
MyVariant Identifiers: chr14:g.23902864C>A (hg19) chr14:g.23433655C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433655C>A , CM000676.2:g.23433655C>A GRCh38
NC_000014.8:g.23902864C>A , CM000676.1:g.23902864C>A GRCh37
NC_000014.7:g.22972704C>A NCBI36
NG_007884.1:g.7007G>T , LRG_384:g.7007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.78G>T MANE Select ENSP00000347507.3:p.Ala26=
ENST00000355349.3:c.78G>T ENSP00000347507.3:p.Ala26=
NM_000257.3:c.78G>T NP_000248.2:p.Ala26=
XR_245686.3:n.184G>T
XM_017021340.1:c.78G>T XP_016876829.1:p.Ala26=
NM_000257.4:c.78G>T MANE Select NP_000248.2:p.Ala26=
Search 100 bp 5'
Search 100 bp 3'