Canonical Allele Identifier: CA016369
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164264
ClinVar RCV Id: RCV000151233 RCV000158713 RCV000477566 RCV001254747 RCV001526079 RCV002345469
dbSNP Id: rs727503240
gnomAD v2: 14-23883068-C-T
gnomAD v3: 14-23413859-C-T
gnomAD v4: 14-23413859-C-T
MyVariant Identifiers: chr14:g.23883068C>T (hg19) chr14:g.23413859C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413859C>T , CM000676.2:g.23413859C>T GRCh38
NC_000014.8:g.23883068C>T , CM000676.1:g.23883068C>T GRCh37
NC_000014.7:g.22952908C>T NCBI36
NG_007884.1:g.26803G>A , LRG_384:g.26803G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5690G>A MANE Select ENSP00000347507.3:p.Arg1897His
ENST00000355349.3:c.5690G>A ENSP00000347507.3:p.Arg1897His
NM_000257.3:c.5690G>A NP_000248.2:p.Arg1897His
XM_017021340.1:c.5690G>A XP_016876829.1:p.Arg1897His
NM_000257.4:c.5690G>A MANE Select NP_000248.2:p.Arg1897His
Search 100 bp 5'
Search 100 bp 3'