Canonical Allele Identifier: CA012832
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42922
ClinVar RCV Id: RCV000162341 RCV000198644 RCV000223927 RCV000242919 RCV000257928 RCV001000982 RCV001170269 RCV002482966 RCV004528169
dbSNP Id: rs397516161
gnomAD v3: 14-23424148-T-C
gnomAD v4: 14-23424148-T-C
MyVariant Identifiers: chr14:g.23893357T>C (hg19) chr14:g.23424148T>C (hg38)
ERepo: CA012832/MONDO:0005045/002
PubMed: PMID:15358028 PMID:15519027 PMID:15858117 PMID:18761664 PMID:21511876 PMID:23396983 PMID:24510615 PMID:24793961 PMID:25132132 PMID:26914223 PMID:27247418 PMID:27532257 PMID:28606303 PMID:28615295 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424148T>C , CM000676.2:g.23424148T>C GRCh38
NC_000014.8:g.23893357T>C , CM000676.1:g.23893357T>C GRCh37
NC_000014.7:g.22963197T>C NCBI36
NG_007884.1:g.16514A>G , LRG_384:g.16514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2681A>G MANE Select ENSP00000347507.3:p.Glu894Gly
ENST00000355349.3:c.2681A>G ENSP00000347507.3:p.Glu894Gly
NM_000257.3:c.2681A>G NP_000248.2:p.Glu894Gly
XR_245686.3:n.2787A>G
XM_017021340.1:c.2681A>G XP_016876829.1:p.Glu894Gly
NM_000257.4:c.2681A>G MANE Select NP_000248.2:p.Glu894Gly
Search 100 bp 5'
Search 100 bp 3'