Canonical Allele Identifier: CA2123451162
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892926667

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431335A>T , CM000676.2:g.23431335A>T GRCh38
NC_000014.8:g.23900544A>T , CM000676.1:g.23900544A>T GRCh37
NC_000014.7:g.22970384A>T NCBI36
NG_007884.1:g.9327T>A , LRG_384:g.9327T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.796+83T>A MANE Select ENSP00000347507.3:n.796+83T>A
ENST00000355349.3:c.796+83T>A ENSP00000347507.3:n.796+83T>A
NM_000257.3:c.796+83T>A NP_000248.2:n.796+83T>A
XR_245686.3:n.902+83T>A
XM_017021340.1:c.796+83T>A XP_016876829.1:n.796+83T>A
NM_000257.4:c.796+83T>A MANE Select NP_000248.2:n.796+83T>A