Canonical Allele Identifier: CA389037680
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 842087
ClinVar RCV Id: RCV001044438 RCV001525767 RCV002339223
dbSNP Id: rs797044600
gnomAD v2: 14-23885403-C-T
gnomAD v4: 14-23416194-C-T
COSMIC: COSM954749
MyVariant Identifiers: chr14:g.23885403C>T (hg19) chr14:g.23416194C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416194C>T , CM000676.2:g.23416194C>T GRCh38
NC_000014.8:g.23885403C>T , CM000676.1:g.23885403C>T GRCh37
NC_000014.7:g.22955243C>T NCBI36
NG_007884.1:g.24468G>A , LRG_384:g.24468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4763G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1588His
ENST00000355349.3:c.4763G>A (MYH7) ENSP00000347507.3:p.Arg1588His
NM_000257.3:c.4763G>A (MYH7) NP_000248.2:p.Arg1588His
NR_126491.1:n.455C>T (MHRT)
XM_017021340.1:c.4763G>A (MYH7) XP_016876829.1:p.Arg1588His
NM_000257.4:c.4763G>A (MYH7) MANE Select NP_000248.2:p.Arg1588His
Search 100 bp 5'
Search 100 bp 3'