Canonical Allele Identifier: CA016379
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14117
ClinVar RCV Id: RCV000015174
dbSNP Id: rs121913649

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413847T>A , CM000676.2:g.23413847T>A GRCh38
NC_000014.8:g.23883056T>A , CM000676.1:g.23883056T>A GRCh37
NC_000014.7:g.22952896T>A NCBI36
NG_007884.1:g.26815A>T , LRG_384:g.26815A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5702A>T MANE Select ENSP00000347507.3:p.His1901Leu
ENST00000355349.3:c.5702A>T ENSP00000347507.3:p.His1901Leu
NM_000257.3:c.5702A>T NP_000248.2:p.His1901Leu
XM_017021340.1:c.5702A>T XP_016876829.1:p.His1901Leu
NM_000257.4:c.5702A>T MANE Select NP_000248.2:p.His1901Leu