Canonical Allele Identifier: CA389040413
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072127
ClinVar RCV Id: RCV004012157
MyVariant Identifiers: chr14:g.23886833C>T (hg19) chr14:g.23417624C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417624C>T , CM000676.2:g.23417624C>T GRCh38
NC_000014.8:g.23886833C>T , CM000676.1:g.23886833C>T GRCh37
NC_000014.7:g.22956673C>T NCBI36
NG_007884.1:g.23038G>A , LRG_384:g.23038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4232G>A MANE Select ENSP00000347507.3:p.Cys1411Tyr
ENST00000355349.3:c.4232G>A ENSP00000347507.3:p.Cys1411Tyr
NM_000257.3:c.4232G>A NP_000248.2:p.Cys1411Tyr
XM_017021340.1:c.4232G>A XP_016876829.1:p.Cys1411Tyr
NM_000257.4:c.4232G>A MANE Select NP_000248.2:p.Cys1411Tyr
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