Canonical Allele Identifier: CA013322
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181211
ClinVar RCV Id: RCV000158584 RCV001525776 RCV001850216 RCV003227682
dbSNP Id: rs730880764
ExAC: 14:23892818 C / T
gnomAD v2: 14-23892818-C-T
gnomAD v4: 14-23423609-C-T
COSMIC: COSM6055624
MyVariant Identifiers: chr14:g.23892818C>T (hg19) chr14:g.23423609C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423609C>T , CM000676.2:g.23423609C>T GRCh38
NC_000014.8:g.23892818C>T , CM000676.1:g.23892818C>T GRCh37
NC_000014.7:g.22962658C>T NCBI36
NG_007884.1:g.17053G>A , LRG_384:g.17053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3037G>A MANE Select ENSP00000347507.3:p.Glu1013Lys
ENST00000355349.3:c.3037G>A ENSP00000347507.3:p.Glu1013Lys
NM_000257.3:c.3037G>A NP_000248.2:p.Glu1013Lys
XR_245686.3:n.3143G>A
XM_017021340.1:c.3037G>A XP_016876829.1:p.Glu1013Lys
NM_000257.4:c.3037G>A MANE Select NP_000248.2:p.Glu1013Lys
Search 100 bp 5'
Search 100 bp 3'