Canonical Allele Identifier: CA015944
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177629
ClinVar RCV Id: RCV000154209 RCV000168915 RCV000462813 RCV000514376 RCV000620185 RCV000765157 RCV001170485 RCV002265629 RCV003993660
dbSNP Id: rs369437262
ExAC: 14:23884437 T / C
gnomAD v2: 14-23884437-T-C
gnomAD v3: 14-23415228-T-C
gnomAD v4: 14-23415228-T-C
MyVariant Identifiers: chr14:g.23884437T>C (hg19) chr14:g.23415228T>C (hg38)
ERepo: CA015944/MONDO:0005045/002
PubMed: PMID:11861410 PMID:11861413 PMID:15136674 PMID:16918501 PMID:21239446 PMID:23074333 PMID:25961035 PMID:27247418 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415228T>C , CM000676.2:g.23415228T>C GRCh38
NC_000014.8:g.23884437T>C , CM000676.1:g.23884437T>C GRCh37
NC_000014.7:g.22954277T>C NCBI36
NG_007884.1:g.25434A>G , LRG_384:g.25434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5326A>G MANE Select ENSP00000347507.3:p.Ser1776Gly
ENST00000355349.3:c.5326A>G ENSP00000347507.3:p.Ser1776Gly
NM_000257.3:c.5326A>G NP_000248.2:p.Ser1776Gly
XM_017021340.1:c.5326A>G XP_016876829.1:p.Ser1776Gly
NM_000257.4:c.5326A>G MANE Select NP_000248.2:p.Ser1776Gly
Search 100 bp 5'
Search 100 bp 3'