Canonical Allele Identifier: CA034403
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 636633
ClinVar RCV Id: RCV000788522 RCV001525515 RCV002535779
dbSNP Id: rs765458590
ExAC: 14:23893216 C / T
gnomAD v2: 14-23893216-C-T
gnomAD v3: 14-23424007-C-T
gnomAD v4: 14-23424007-C-T
COSMIC: COSM1369228
MyVariant Identifiers: chr14:g.23893216C>T (hg19) chr14:g.23424007C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424007C>T , CM000676.2:g.23424007C>T GRCh38
NC_000014.8:g.23893216C>T , CM000676.1:g.23893216C>T GRCh37
NC_000014.7:g.22963056C>T NCBI36
NG_007884.1:g.16655G>A , LRG_384:g.16655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2822G>A MANE Select ENSP00000347507.3:p.Arg941His
ENST00000355349.3:c.2822G>A ENSP00000347507.3:p.Arg941His
NM_000257.3:c.2822G>A NP_000248.2:p.Arg941His
XR_245686.3:n.2928G>A
XM_017021340.1:c.2822G>A XP_016876829.1:p.Arg941His
NM_000257.4:c.2822G>A MANE Select NP_000248.2:p.Arg941His
Search 100 bp 5'
Search 100 bp 3'