Canonical Allele Identifier: CA485618603
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 755676
ClinVar RCV Id: RCV000933121
dbSNP Id: rs1595076323
MyVariant Identifiers: chr14:g.23887550C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418341C>T , CM000676.2:g.23418341C>T GRCh38
NC_000014.8:g.23887550C>T , CM000676.1:g.23887550C>T GRCh37
NC_000014.7:g.22957390C>T NCBI36
NG_007884.1:g.22321G>A , LRG_384:g.22321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4038G>A MANE Select ENSP00000347507.3:p.Gln1346=
ENST00000355349.3:c.4038G>A ENSP00000347507.3:p.Gln1346=
NM_000257.3:c.4038G>A NP_000248.2:p.Gln1346=
XM_017021340.1:c.4038G>A XP_016876829.1:p.Gln1346=
NM_000257.4:c.4038G>A MANE Select NP_000248.2:p.Gln1346=
Search 100 bp 5'
Search 100 bp 3'