Canonical Allele Identifier: CA389046293
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423653G>A , CM000676.2:g.23423653G>A GRCh38
NC_000014.8:g.23892862G>A , CM000676.1:g.23892862G>A GRCh37
NC_000014.7:g.22962702G>A NCBI36
NG_007884.1:g.17009C>T , LRG_384:g.17009C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2993C>T MANE Select ENSP00000347507.3:p.Ala998Val
ENST00000355349.3:c.2993C>T ENSP00000347507.3:p.Ala998Val
NM_000257.3:c.2993C>T NP_000248.2:p.Ala998Val
XR_245686.3:n.3099C>T
XM_017021340.1:c.2993C>T XP_016876829.1:p.Ala998Val
NM_000257.4:c.2993C>T MANE Select NP_000248.2:p.Ala998Val