Canonical Allele Identifier: CA485767263
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794933
ClinVar RCV Id: RCV002437400
MyVariant Identifiers: chr14:g.23893338A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424129A>G , CM000676.2:g.23424129A>G GRCh38
NC_000014.8:g.23893338A>G , CM000676.1:g.23893338A>G GRCh37
NC_000014.7:g.22963178A>G NCBI36
NG_007884.1:g.16533T>C , LRG_384:g.16533T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2700T>C MANE Select ENSP00000347507.3:p.Asp900=
ENST00000355349.3:c.2700T>C ENSP00000347507.3:p.Asp900=
NM_000257.3:c.2700T>C NP_000248.2:p.Asp900=
XR_245686.3:n.2806T>C
XM_017021340.1:c.2700T>C XP_016876829.1:p.Asp900=
NM_000257.4:c.2700T>C MANE Select NP_000248.2:p.Asp900=