Canonical Allele Identifier: CA389041767
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419280T>A , CM000676.2:g.23419280T>A GRCh38
NC_000014.8:g.23888489T>A , CM000676.1:g.23888489T>A GRCh37
NC_000014.7:g.22958329T>A NCBI36
NG_007884.1:g.21382A>T , LRG_384:g.21382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3869A>T MANE Select ENSP00000347507.3:p.Gln1290Leu
ENST00000355349.3:c.3869A>T ENSP00000347507.3:p.Gln1290Leu
NM_000257.3:c.3869A>T NP_000248.2:p.Gln1290Leu
XM_017021340.1:c.3869A>T XP_016876829.1:p.Gln1290Leu
NM_000257.4:c.3869A>T MANE Select NP_000248.2:p.Gln1290Leu