Canonical Allele Identifier: CA389052562
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431848C>A , CM000676.2:g.23431848C>A GRCh38
NC_000014.8:g.23901057C>A , CM000676.1:g.23901057C>A GRCh37
NC_000014.7:g.22970897C>A NCBI36
NG_007884.1:g.8814G>T , LRG_384:g.8814G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.552G>T MANE Select ENSP00000347507.3:p.Lys184Asn
ENST00000355349.3:c.552G>T ENSP00000347507.3:p.Lys184Asn
NM_000257.3:c.552G>T NP_000248.2:p.Lys184Asn
XR_245686.3:n.658G>T
XM_017021340.1:c.552G>T XP_016876829.1:p.Lys184Asn
NM_000257.4:c.552G>T MANE Select NP_000248.2:p.Lys184Asn