Canonical Allele Identifier: CA389034537
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 518640
dbSNP Id: rs1343372308

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413792C>G , CM000676.2:g.23413792C>G GRCh38
NC_000014.8:g.23883001C>G , CM000676.1:g.23883001C>G GRCh37
NC_000014.7:g.22952841C>G NCBI36
NG_007884.1:g.26870G>C , LRG_384:g.26870G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5757G>C MANE Select ENSP00000347507.3:p.Lys1919Asn
ENST00000355349.3:c.5757G>C ENSP00000347507.3:p.Lys1919Asn
NM_000257.3:c.5757G>C NP_000248.2:p.Lys1919Asn
XM_017021340.1:c.5757G>C XP_016876829.1:p.Lys1919Asn
NM_000257.4:c.5757G>C MANE Select NP_000248.2:p.Lys1919Asn