Canonical Allele Identifier: CA046725
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 619082
ClinVar RCV Id: RCV000757956 RCV001207953 RCV002343609 RCV003333104 RCV003333106 RCV003150341 RCV003333107 RCV003333103 RCV003333105
dbSNP Id: rs760187215
ExAC: 14:23901068 C / T
gnomAD v2: 14-23901068-C-T
gnomAD v4: 14-23431859-C-T
MyVariant Identifiers: chr14:g.23901068C>T (hg19) chr14:g.23431859C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431859C>T , CM000676.2:g.23431859C>T GRCh38
NC_000014.8:g.23901068C>T , CM000676.1:g.23901068C>T GRCh37
NC_000014.7:g.22970908C>T NCBI36
NG_007884.1:g.8803G>A , LRG_384:g.8803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.541G>A MANE Select ENSP00000347507.3:p.Gly181Arg
ENST00000355349.3:c.541G>A ENSP00000347507.3:p.Gly181Arg
NM_000257.3:c.541G>A NP_000248.2:p.Gly181Arg
XR_245686.3:n.647G>A
XM_017021340.1:c.541G>A XP_016876829.1:p.Gly181Arg
NM_000257.4:c.541G>A MANE Select NP_000248.2:p.Gly181Arg
Search 100 bp 5'
Search 100 bp 3'