Canonical Allele Identifier: CA389050809
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687316
ClinVar RCV Id: RCV002250998
dbSNP Id: rs1555338319
MyVariant Identifiers: chr14:g.23898221C>A (hg19) chr14:g.23429012C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429012C>A , CM000676.2:g.23429012C>A GRCh38
NC_000014.8:g.23898221C>A , CM000676.1:g.23898221C>A GRCh37
NC_000014.7:g.22968061C>A NCBI36
NG_007884.1:g.11650G>T , LRG_384:g.11650G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1350G>T MANE Select ENSP00000347507.3:p.Lys450Asn
ENST00000355349.3:c.1350G>T ENSP00000347507.3:p.Lys450Asn
NM_000257.3:c.1350G>T NP_000248.2:p.Lys450Asn
XR_245686.3:n.1456G>T
XM_017021340.1:c.1350G>T XP_016876829.1:p.Lys450Asn
NM_000257.4:c.1350G>T MANE Select NP_000248.2:p.Lys450Asn
Search 100 bp 5'
Search 100 bp 3'