Canonical Allele Identifier: CA389052204
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060056
ClinVar RCV Id: RCV001369433 RCV003323301
dbSNP Id: rs202141819
COSMIC: COSM698143
MyVariant Identifiers: chr14:g.23900812G>C (hg19) chr14:g.23431603G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431603G>C , CM000676.2:g.23431603G>C GRCh38
NC_000014.8:g.23900812G>C , CM000676.1:g.23900812G>C GRCh37
NC_000014.7:g.22970652G>C NCBI36
NG_007884.1:g.9059C>G , LRG_384:g.9059C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.714C>G MANE Select ENSP00000347507.3:p.Asn238Lys
ENST00000355349.3:c.714C>G ENSP00000347507.3:p.Asn238Lys
NM_000257.3:c.714C>G NP_000248.2:p.Asn238Lys
XR_245686.3:n.820C>G
XM_017021340.1:c.714C>G XP_016876829.1:p.Asn238Lys
NM_000257.4:c.714C>G MANE Select NP_000248.2:p.Asn238Lys
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