Canonical Allele Identifier: CA257825620
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579158
ClinVar RCV Id: RCV002093098
dbSNP Id: rs959305953
gnomAD v2: 14-23900177-C-T
gnomAD v4: 14-23430968-C-T
MyVariant Identifiers: chr14:g.23900177C>T (hg19) chr14:g.23430968C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430968C>T , CM000676.2:g.23430968C>T GRCh38
NC_000014.8:g.23900177C>T , CM000676.1:g.23900177C>T GRCh37
NC_000014.7:g.22970017C>T NCBI36
NG_007884.1:g.9694G>A , LRG_384:g.9694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.828G>A MANE Select ENSP00000347507.3:p.Gln276=
ENST00000355349.3:c.828G>A ENSP00000347507.3:p.Gln276=
NM_000257.3:c.828G>A NP_000248.2:p.Gln276=
XR_245686.3:n.934G>A
XM_017021340.1:c.828G>A XP_016876829.1:p.Gln276=
NM_000257.4:c.828G>A MANE Select NP_000248.2:p.Gln276=
Search 100 bp 5'
Search 100 bp 3'