Canonical Allele Identifier: CA016679
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43100
ClinVar RCV Id: RCV000035995 RCV000162339 RCV000622036 RCV000628940 RCV000762926 RCV001170745
dbSNP Id: rs397516264
gnomAD v2: 14-23900811-C-T
gnomAD v4: 14-23431602-C-T
COSMIC: COSM4557120
MyVariant Identifiers: chr14:g.23900811C>T (hg19) chr14:g.23431602C>T (hg38)
ERepo: CA016679/MONDO:0005045/002
PubMed: PMID:17438619 PMID:20031618 PMID:21896538 PMID:25351510 PMID:26914223 PMID:27247418 PMID:27974200
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431602C>T , CM000676.2:g.23431602C>T GRCh38
NC_000014.8:g.23900811C>T , CM000676.1:g.23900811C>T GRCh37
NC_000014.7:g.22970651C>T NCBI36
NG_007884.1:g.9060G>A , LRG_384:g.9060G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.715G>A MANE Select ENSP00000347507.3:p.Asp239Asn
ENST00000355349.3:c.715G>A ENSP00000347507.3:p.Asp239Asn
NM_000257.3:c.715G>A NP_000248.2:p.Asp239Asn
XR_245686.3:n.821G>A
XM_017021340.1:c.715G>A XP_016876829.1:p.Asp239Asn
NM_000257.4:c.715G>A MANE Select NP_000248.2:p.Asp239Asn
Search 100 bp 5'
Search 100 bp 3'