Canonical Allele Identifier: CA047983
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 920238
ClinVar RCV Id: RCV001178901 RCV001345235 RCV002348607
dbSNP Id: rs756655803
ExAC: 14:23883069 G / A
gnomAD v2: 14-23883069-G-A
gnomAD v3: 14-23413860-G-A
gnomAD v4: 14-23413860-G-A
MyVariant Identifiers: chr14:g.23883069G>A (hg19) chr14:g.23413860G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413860G>A , CM000676.2:g.23413860G>A GRCh38
NC_000014.8:g.23883069G>A , CM000676.1:g.23883069G>A GRCh37
NC_000014.7:g.22952909G>A NCBI36
NG_007884.1:g.26802C>T , LRG_384:g.26802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5689C>T MANE Select ENSP00000347507.3:p.Arg1897Cys
ENST00000355349.3:c.5689C>T ENSP00000347507.3:p.Arg1897Cys
NM_000257.3:c.5689C>T NP_000248.2:p.Arg1897Cys
XM_017021340.1:c.5689C>T XP_016876829.1:p.Arg1897Cys
NM_000257.4:c.5689C>T MANE Select NP_000248.2:p.Arg1897Cys
Search 100 bp 5'
Search 100 bp 3'