Canonical Allele Identifier: CA389052341
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 429960
ClinVar RCV Id: RCV000492868 RCV001865551
dbSNP Id: rs772488436
MyVariant Identifiers: chr14:g.23900880G>C (hg19) chr14:g.23431671G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431671G>C , CM000676.2:g.23431671G>C GRCh38
NC_000014.8:g.23900880G>C , CM000676.1:g.23900880G>C GRCh37
NC_000014.7:g.22970720G>C NCBI36
NG_007884.1:g.8991C>G , LRG_384:g.8991C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.646C>G MANE Select ENSP00000347507.3:p.Leu216Val
ENST00000355349.3:c.646C>G ENSP00000347507.3:p.Leu216Val
NM_000257.3:c.646C>G NP_000248.2:p.Leu216Val
XR_245686.3:n.752C>G
XM_017021340.1:c.646C>G XP_016876829.1:p.Leu216Val
NM_000257.4:c.646C>G MANE Select NP_000248.2:p.Leu216Val
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