Canonical Allele Identifier: CA389037596
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 3070409
ClinVar RCV Id: RCV004012919
gnomAD v4: 14-23416151-G-T
MyVariant Identifiers: chr14:g.23885360G>T (hg19) chr14:g.23416151G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416151G>T , CM000676.2:g.23416151G>T GRCh38
NC_000014.8:g.23885360G>T , CM000676.1:g.23885360G>T GRCh37
NC_000014.7:g.22955200G>T NCBI36
NG_007884.1:g.24511C>A , LRG_384:g.24511C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4806C>A (MYH7) MANE Select ENSP00000347507.3:p.Asp1602Glu
ENST00000355349.3:c.4806C>A (MYH7) ENSP00000347507.3:p.Asp1602Glu
NM_000257.3:c.4806C>A (MYH7) NP_000248.2:p.Asp1602Glu
NR_126491.1:n.412G>T (MHRT)
XM_017021340.1:c.4806C>A (MYH7) XP_016876829.1:p.Asp1602Glu
NM_000257.4:c.4806C>A (MYH7) MANE Select NP_000248.2:p.Asp1602Glu
Search 100 bp 5'
Search 100 bp 3'