Canonical Allele Identifier: CA485767336
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 525113
ClinVar RCV Id: RCV000629138
dbSNP Id: rs1555338666

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431621A>G , CM000676.2:g.23431621A>G GRCh38
NC_000014.8:g.23900830A>G , CM000676.1:g.23900830A>G GRCh37
NC_000014.7:g.22970670A>G NCBI36
NG_007884.1:g.9041T>C , LRG_384:g.9041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.696T>C MANE Select ENSP00000347507.3:p.Asn232=
ENST00000355349.3:c.696T>C ENSP00000347507.3:p.Asn232=
NM_000257.3:c.696T>C NP_000248.2:p.Asn232=
XR_245686.3:n.802T>C
XM_017021340.1:c.696T>C XP_016876829.1:p.Asn232=
NM_000257.4:c.696T>C MANE Select NP_000248.2:p.Asn232=