Canonical Allele Identifier: CA389044501
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23421021G>C , CM000676.2:g.23421021G>C GRCh38
NC_000014.8:g.23890230G>C , CM000676.1:g.23890230G>C GRCh37
NC_000014.7:g.22960070G>C NCBI36
NG_007884.1:g.19641C>G , LRG_384:g.19641C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3273C>G MANE Select ENSP00000347507.3:p.Asn1091Lys
ENST00000355349.3:c.3273C>G ENSP00000347507.3:p.Asn1091Lys
NM_000257.3:c.3273C>G NP_000248.2:p.Asn1091Lys
XR_245686.3:n.3381C>G
XM_017021340.1:c.3273C>G XP_016876829.1:p.Asn1091Lys
NM_000257.4:c.3273C>G MANE Select NP_000248.2:p.Asn1091Lys