Canonical Allele Identifier: CA485627096
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1089166
ClinVar RCV Id: RCV001407922
dbSNP Id: rs1385090050
gnomAD v4: 14-23433535-G-C
MyVariant Identifiers: chr14:g.23902744G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433535G>C , CM000676.2:g.23433535G>C GRCh38
NC_000014.8:g.23902744G>C , CM000676.1:g.23902744G>C GRCh37
NC_000014.7:g.22972584G>C NCBI36
NG_007884.1:g.7127C>G , LRG_384:g.7127C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.198C>G MANE Select ENSP00000347507.3:p.Gly66=
ENST00000355349.3:c.198C>G ENSP00000347507.3:p.Gly66=
NM_000257.3:c.198C>G NP_000248.2:p.Gly66=
XR_245686.3:n.304C>G
XM_017021340.1:c.198C>G XP_016876829.1:p.Gly66=
NM_000257.4:c.198C>G MANE Select NP_000248.2:p.Gly66=
Search 100 bp 5'
Search 100 bp 3'