Canonical Allele Identifier: CA2499710844
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429189C>A , CM000676.2:g.23429189C>A GRCh38
NC_000014.8:g.23898398C>A , CM000676.1:g.23898398C>A GRCh37
NC_000014.7:g.22968238C>A NCBI36
NG_007884.1:g.11473G>T , LRG_384:g.11473G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1257+40G>T MANE Select ENSP00000347507.3:n.1257+40G>T
ENST00000355349.3:c.1257+40G>T ENSP00000347507.3:n.1257+40G>T
NM_000257.3:c.1257+40G>T NP_000248.2:n.1257+40G>T
XR_245686.3:n.1363+40G>T
XM_017021340.1:c.1257+40G>T XP_016876829.1:n.1257+40G>T
NM_000257.4:c.1257+40G>T MANE Select NP_000248.2:n.1257+40G>T