Canonical Allele Identifier: CA389051250
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 575443
ClinVar RCV Id: RCV000697662
dbSNP Id: rs1566535491

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429341T>C , CM000676.2:g.23429341T>C GRCh38
NC_000014.8:g.23898550T>C , CM000676.1:g.23898550T>C GRCh37
NC_000014.7:g.22968390T>C NCBI36
NG_007884.1:g.11321A>G , LRG_384:g.11321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1145A>G MANE Select ENSP00000347507.3:p.Asp382Gly
ENST00000355349.3:c.1145A>G ENSP00000347507.3:p.Asp382Gly
NM_000257.3:c.1145A>G NP_000248.2:p.Asp382Gly
XR_245686.3:n.1251A>G
XM_017021340.1:c.1145A>G XP_016876829.1:p.Asp382Gly
NM_000257.4:c.1145A>G MANE Select NP_000248.2:p.Asp382Gly