Canonical Allele Identifier: CA011779
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14104
dbSNP Id: rs121913637
COSMIC: COSM403676

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425971G>A , CM000676.2:g.23425971G>A GRCh38
NC_000014.8:g.23895180G>A , CM000676.1:g.23895180G>A GRCh37
NC_000014.7:g.22965020G>A NCBI36
NG_007884.1:g.14691C>T , LRG_384:g.14691C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2155C>T MANE Select ENSP00000347507.3:p.Arg719Trp
ENST00000355349.3:c.2155C>T ENSP00000347507.3:p.Arg719Trp
NM_000257.3:c.2155C>T NP_000248.2:p.Arg719Trp
XR_245686.3:n.2261C>T
XM_017021340.1:c.2155C>T XP_016876829.1:p.Arg719Trp
NM_000257.4:c.2155C>T MANE Select NP_000248.2:p.Arg719Trp