Canonical Allele Identifier: CA014718
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43003
ClinVar RCV Id: RCV000035897 RCV000148697 RCV000758078 RCV001185537 RCV001703872 RCV002504880 RCV003333012 RCV003333013 RCV003333014 RCV003333015 RCV003333016
dbSNP Id: rs145213771
ExAC: 14:23886807 G / A
gnomAD v2: 14-23886807-G-A
gnomAD v3: 14-23417598-G-A
gnomAD v4: 14-23417598-G-A
MyVariant Identifiers: chr14:g.23886807G>A (hg19) chr14:g.23417598G>A (hg38)
PubMed: PMID:15358028 PMID:20624503 PMID:20800588 PMID:21817903 PMID:23283745 PMID:29300372
ERepo: CA014718/MONDO:0005045/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417598G>A , CM000676.2:g.23417598G>A GRCh38
NC_000014.8:g.23886807G>A , CM000676.1:g.23886807G>A GRCh37
NC_000014.7:g.22956647G>A NCBI36
NG_007884.1:g.23064C>T , LRG_384:g.23064C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4258C>T MANE Select ENSP00000347507.3:p.Arg1420Trp
ENST00000355349.3:c.4258C>T ENSP00000347507.3:p.Arg1420Trp
NM_000257.3:c.4258C>T NP_000248.2:p.Arg1420Trp
XM_017021340.1:c.4258C>T XP_016876829.1:p.Arg1420Trp
NM_000257.4:c.4258C>T MANE Select NP_000248.2:p.Arg1420Trp
Search 100 bp 5'
Search 100 bp 3'