Canonical Allele Identifier: CA257823315
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 454340
ClinVar RCV Id: RCV001399635 RCV002384030
dbSNP Id: rs1025444130
gnomAD v2: 14-23898206-G-A
gnomAD v3: 14-23428997-G-A
gnomAD v4: 14-23428997-G-A
MyVariant Identifiers: chr14:g.23898206G>A (hg19) chr14:g.23428997G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428997G>A , CM000676.2:g.23428997G>A GRCh38
NC_000014.8:g.23898206G>A , CM000676.1:g.23898206G>A GRCh37
NC_000014.7:g.22968046G>A NCBI36
NG_007884.1:g.11665C>T , LRG_384:g.11665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1365C>T MANE Select ENSP00000347507.3:p.Tyr455=
ENST00000355349.3:c.1365C>T ENSP00000347507.3:p.Tyr455=
NM_000257.3:c.1365C>T NP_000248.2:p.Tyr455=
XR_245686.3:n.1471C>T
XM_017021340.1:c.1365C>T XP_016876829.1:p.Tyr455=
NM_000257.4:c.1365C>T MANE Select NP_000248.2:p.Tyr455=
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Search 100 bp 3'