Canonical Allele Identifier: CA014400
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164294
ClinVar RCV Id: RCV000151243 RCV000223815 RCV000461192 RCV000619582 RCV000584808 RCV000772181 RCV001808414
dbSNP Id: rs727503246
gnomAD v3: 14-23418313-C-T
gnomAD v4: 14-23418313-C-T
COSMIC: COSM144473
MyVariant Identifiers: chr14:g.23887522C>T (hg19) chr14:g.23418313C>T (hg38)
PubMed: PMID:15358028 PMID:15856146 PMID:16335287 PMID:19808356 PMID:19913502 PMID:20800588 PMID:22857948 PMID:23074333 PMID:23283745 PMID:23396983 PMID:23782526 PMID:24047955 PMID:25351510 PMID:26688388 PMID:27247418 PMID:27532257 PMID:29300372
ERepo: CA014400/MONDO:0005045/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418313C>T , CM000676.2:g.23418313C>T GRCh38
NC_000014.8:g.23887522C>T , CM000676.1:g.23887522C>T GRCh37
NC_000014.7:g.22957362C>T NCBI36
NG_007884.1:g.22349G>A , LRG_384:g.22349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4066G>A MANE Select ENSP00000347507.3:p.Glu1356Lys
ENST00000355349.3:c.4066G>A ENSP00000347507.3:p.Glu1356Lys
NM_000257.3:c.4066G>A NP_000248.2:p.Glu1356Lys
XM_017021340.1:c.4066G>A XP_016876829.1:p.Glu1356Lys
NM_000257.4:c.4066G>A MANE Select NP_000248.2:p.Glu1356Lys
Search 100 bp 5'
Search 100 bp 3'