Canonical Allele Identifier: CA485767235
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1224146
ClinVar RCV Id: RCV001594661
dbSNP Id: rs2138681188
MyVariant Identifiers: chr14:g.23900646T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431437T>A , CM000676.2:g.23431437T>A GRCh38
NC_000014.8:g.23900646T>A , CM000676.1:g.23900646T>A GRCh37
NC_000014.7:g.22970486T>A NCBI36
NG_007884.1:g.9225A>T , LRG_384:g.9225A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.777A>T MANE Select ENSP00000347507.3:p.Ala259=
ENST00000355349.3:c.777A>T ENSP00000347507.3:p.Ala259=
NM_000257.3:c.777A>T NP_000248.2:p.Ala259=
XR_245686.3:n.883A>T
XM_017021340.1:c.777A>T XP_016876829.1:p.Ala259=
NM_000257.4:c.777A>T MANE Select NP_000248.2:p.Ala259=
Search 100 bp 5'
Search 100 bp 3'