Canonical Allele Identifier: CA015893
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43059
ClinVar RCV Id: RCV000035954 RCV000467506 RCV000766469
dbSNP Id: rs397516241
MyVariant Identifiers: chr14:g.23884461C>T (hg19) chr14:g.23415252C>T (hg38)
ERepo: CA015893/MONDO:0005045/002
PubMed: PMID:15358028 PMID:24047955 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415252C>T , CM000676.2:g.23415252C>T GRCh38
NC_000014.8:g.23884461C>T , CM000676.1:g.23884461C>T GRCh37
NC_000014.7:g.22954301C>T NCBI36
NG_007884.1:g.25410G>A , LRG_384:g.25410G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5302G>A MANE Select ENSP00000347507.3:p.Glu1768Lys
ENST00000355349.3:c.5302G>A ENSP00000347507.3:p.Glu1768Lys
NM_000257.3:c.5302G>A NP_000248.2:p.Glu1768Lys
XM_017021340.1:c.5302G>A XP_016876829.1:p.Glu1768Lys
NM_000257.4:c.5302G>A MANE Select NP_000248.2:p.Glu1768Lys
Search 100 bp 5'
Search 100 bp 3'