Canonical Allele Identifier: CA014482
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164293
ClinVar RCV Id: RCV000823746 RCV001171199
dbSNP Id: rs727503245
MyVariant Identifiers: chr14:g.23887464T>C (hg19) chr14:g.23418255T>C (hg38)
PubMed: PMID:25611685 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418255T>C , CM000676.2:g.23418255T>C GRCh38
NC_000014.8:g.23887464T>C , CM000676.1:g.23887464T>C GRCh37
NC_000014.7:g.22957304T>C NCBI36
NG_007884.1:g.22407A>G , LRG_384:g.22407A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4124A>G MANE Select ENSP00000347507.3:p.Tyr1375Cys
ENST00000355349.3:c.4124A>G ENSP00000347507.3:p.Tyr1375Cys
NM_000257.3:c.4124A>G NP_000248.2:p.Tyr1375Cys
XM_017021340.1:c.4124A>G XP_016876829.1:p.Tyr1375Cys
NM_000257.4:c.4124A>G MANE Select NP_000248.2:p.Tyr1375Cys
Search 100 bp 5'
Search 100 bp 3'