Canonical Allele Identifier: CA043989
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1171285
ClinVar RCV Id: RCV001524249 RCV002568776
dbSNP Id: rs587779391
ExAC: 14:23885343 C / A
gnomAD v2: 14-23885343-C-A
gnomAD v4: 14-23416134-C-A
MyVariant Identifiers: chr14:g.23885343C>A (hg19) chr14:g.23416134C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416134C>A , CM000676.2:g.23416134C>A GRCh38
NC_000014.8:g.23885343C>A , CM000676.1:g.23885343C>A GRCh37
NC_000014.7:g.22955183C>A NCBI36
NG_007884.1:g.24528G>T , LRG_384:g.24528G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4823G>T (MYH7) MANE Select ENSP00000347507.3:p.Arg1608Leu
ENST00000355349.3:c.4823G>T (MYH7) ENSP00000347507.3:p.Arg1608Leu
NM_000257.3:c.4823G>T (MYH7) NP_000248.2:p.Arg1608Leu
NR_126491.1:n.395C>A (MHRT)
XM_017021340.1:c.4823G>T (MYH7) XP_016876829.1:p.Arg1608Leu
NM_000257.4:c.4823G>T (MYH7) MANE Select NP_000248.2:p.Arg1608Leu
Search 100 bp 5'
Search 100 bp 3'