Canonical Allele Identifier: CA2123455632
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1893031057

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433505G>A , CM000676.2:g.23433505G>A GRCh38
NC_000014.8:g.23902714G>A , CM000676.1:g.23902714G>A GRCh37
NC_000014.7:g.22972554G>A NCBI36
NG_007884.1:g.7157C>T , LRG_384:g.7157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.201+27C>T MANE Select ENSP00000347507.3:n.201+27C>T
ENST00000355349.3:c.201+27C>T ENSP00000347507.3:n.201+27C>T
NM_000257.3:c.201+27C>T NP_000248.2:n.201+27C>T
XR_245686.3:n.307+27C>T
XM_017021340.1:c.201+27C>T XP_016876829.1:n.201+27C>T
NM_000257.4:c.201+27C>T MANE Select NP_000248.2:n.201+27C>T