Canonical Allele Identifier: CA012535
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42912
dbSNP Id: rs397516154

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424923C>T , CM000676.2:g.23424923C>T GRCh38
NC_000014.8:g.23894132C>T , CM000676.1:g.23894132C>T GRCh37
NC_000014.7:g.22963972C>T NCBI36
NG_007884.1:g.15739G>A , LRG_384:g.15739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2525G>A MANE Select ENSP00000347507.3:p.Ser842Asn
ENST00000355349.3:c.2525G>A ENSP00000347507.3:p.Ser842Asn
NM_000257.3:c.2525G>A NP_000248.2:p.Ser842Asn
XR_245686.3:n.2631G>A
XM_017021340.1:c.2525G>A XP_016876829.1:p.Ser842Asn
NM_000257.4:c.2525G>A MANE Select NP_000248.2:p.Ser842Asn