Canonical Allele Identifier: CA389054103
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 934390
ClinVar RCV Id: RCV001202769
dbSNP Id: rs1893041022
MyVariant Identifiers: chr14:g.23902895A>G (hg19) chr14:g.23433686A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433686A>G , CM000676.2:g.23433686A>G GRCh38
NC_000014.8:g.23902895A>G , CM000676.1:g.23902895A>G GRCh37
NC_000014.7:g.22972735A>G NCBI36
NG_007884.1:g.6976T>C , LRG_384:g.6976T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.47T>C MANE Select ENSP00000347507.3:p.Leu16Pro
ENST00000355349.3:c.47T>C ENSP00000347507.3:p.Leu16Pro
NM_000257.3:c.47T>C NP_000248.2:p.Leu16Pro
XR_245686.3:n.153T>C
XM_017021340.1:c.47T>C XP_016876829.1:p.Leu16Pro
NM_000257.4:c.47T>C MANE Select NP_000248.2:p.Leu16Pro
Search 100 bp 5'
Search 100 bp 3'