Canonical Allele Identifier: CA011756
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177673
ClinVar RCV Id: RCV000154269 RCV003907458
dbSNP Id: rs727504272
MyVariant Identifiers: chr14:g.23895206G>A (hg19) chr14:g.23425997G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425997G>A , CM000676.2:g.23425997G>A GRCh38
NC_000014.8:g.23895206G>A , CM000676.1:g.23895206G>A GRCh37
NC_000014.7:g.22965046G>A NCBI36
NG_007884.1:g.14665C>T , LRG_384:g.14665C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2129C>T MANE Select ENSP00000347507.3:p.Pro710Leu
ENST00000355349.3:c.2129C>T ENSP00000347507.3:p.Pro710Leu
NM_000257.3:c.2129C>T NP_000248.2:p.Pro710Leu
XR_245686.3:n.2235C>T
XM_017021340.1:c.2129C>T XP_016876829.1:p.Pro710Leu
NM_000257.4:c.2129C>T MANE Select NP_000248.2:p.Pro710Leu
Search 100 bp 5'
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