Canonical Allele Identifier: CA037275
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773926
ClinVar RCV Id: RCV003532689
dbSNP Id: rs773604076

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420150G>A , CM000676.2:g.23420150G>A GRCh38
NC_000014.8:g.23889359G>A , CM000676.1:g.23889359G>A GRCh37
NC_000014.7:g.22959199G>A NCBI36
NG_007884.1:g.20512C>T , LRG_384:g.20512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3421C>T MANE Select ENSP00000347507.3:p.Arg1141Trp
ENST00000355349.3:c.3421C>T ENSP00000347507.3:p.Arg1141Trp
NM_000257.3:c.3421C>T NP_000248.2:p.Arg1141Trp
XM_017021340.1:c.3421C>T XP_016876829.1:p.Arg1141Trp
NM_000257.4:c.3421C>T MANE Select NP_000248.2:p.Arg1141Trp