Canonical Allele Identifier: CA038128
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 418363
ClinVar RCV Id: RCV000480443 RCV000620521 RCV000989188 RCV001796071 RCV001856815
dbSNP Id: rs529700838
ExAC: 14:23889159 G / C
gnomAD v4: 14-23419950-G-C
MyVariant Identifiers: chr14:g.23889159G>C (hg19) chr14:g.23419950G>C (hg38)
PubMed: PMID:20513729
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419950G>C , CM000676.2:g.23419950G>C GRCh38
NC_000014.8:g.23889159G>C , CM000676.1:g.23889159G>C GRCh37
NC_000014.7:g.22958999G>C NCBI36
NG_007884.1:g.20712C>G , LRG_384:g.20712C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3621C>G MANE Select ENSP00000347507.3:p.Ile1207Met
ENST00000355349.3:c.3621C>G ENSP00000347507.3:p.Ile1207Met
NM_000257.3:c.3621C>G NP_000248.2:p.Ile1207Met
XM_017021340.1:c.3621C>G XP_016876829.1:p.Ile1207Met
NM_000257.4:c.3621C>G MANE Select NP_000248.2:p.Ile1207Met
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