Canonical Allele Identifier: CA704292510
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1978574
ClinVar RCV Id: RCV002775090
dbSNP Id: rs1458942752

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424165A>G , CM000676.2:g.23424165A>G GRCh38
NC_000014.8:g.23893374A>G , CM000676.1:g.23893374A>G GRCh37
NC_000014.7:g.22963214A>G NCBI36
NG_007884.1:g.16497T>C , LRG_384:g.16497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2680-16T>C MANE Select ENSP00000347507.3:n.2680-16T>C
ENST00000355349.3:c.2680-16T>C ENSP00000347507.3:n.2680-16T>C
NM_000257.3:c.2680-16T>C NP_000248.2:n.2680-16T>C
XR_245686.3:n.2786-16T>C
XM_017021340.1:c.2680-16T>C XP_016876829.1:n.2680-16T>C
NM_000257.4:c.2680-16T>C MANE Select NP_000248.2:n.2680-16T>C