Canonical Allele Identifier: CA016969
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177865
ClinVar RCV Id: RCV000154503 RCV000619517 RCV000758031 RCV000712364 RCV001083391 RCV004544407
dbSNP Id: rs111626355
ExAC: 14:23899838 A / G
gnomAD v2: 14-23899838-A-G
gnomAD v3: 14-23430629-A-G
gnomAD v4: 14-23430629-A-G
MyVariant Identifiers: chr14:g.23899838A>G (hg19) chr14:g.23430629A>G (hg38)
PubMed: PMID:29300372
ERepo: CA016969/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430629A>G , CM000676.2:g.23430629A>G GRCh38
NC_000014.8:g.23899838A>G , CM000676.1:g.23899838A>G GRCh37
NC_000014.7:g.22969678A>G NCBI36
NG_007884.1:g.10033T>C , LRG_384:g.10033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.930T>C MANE Select ENSP00000347507.3:p.Tyr310=
ENST00000355349.3:c.930T>C ENSP00000347507.3:p.Tyr310=
NM_000257.3:c.930T>C NP_000248.2:p.Tyr310=
XR_245686.3:n.1036T>C
XM_017021340.1:c.930T>C XP_016876829.1:p.Tyr310=
NM_000257.4:c.930T>C MANE Select NP_000248.2:p.Tyr310=
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