Canonical Allele Identifier: CA016839
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43107
dbSNP Id: rs369286647

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431411C>T , CM000676.2:g.23431411C>T GRCh38
NC_000014.8:g.23900620C>T , CM000676.1:g.23900620C>T GRCh37
NC_000014.7:g.22970460C>T NCBI36
NG_007884.1:g.9251G>A , LRG_384:g.9251G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.796+7G>A MANE Select ENSP00000347507.3:n.796+7G>A
ENST00000355349.3:c.796+7G>A ENSP00000347507.3:n.796+7G>A
NM_000257.3:c.796+7G>A NP_000248.2:n.796+7G>A
XR_245686.3:n.902+7G>A
XM_017021340.1:c.796+7G>A XP_016876829.1:n.796+7G>A
NM_000257.4:c.796+7G>A MANE Select NP_000248.2:n.796+7G>A