Canonical Allele Identifier: CA8392685
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1909356
ClinVar RCV Id: RCV002600225 RCV004064589
dbSNP Id: rs747225470
ExAC: 17:10543053 C / T
gnomAD v2: 17-10543053-C-T
gnomAD v3: 17-10639736-C-T
gnomAD v4: 17-10639736-C-T
MyVariant Identifiers: chr17:g.10543053C>T (hg19) chr17:g.10639736C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639736C>T , CM000679.2:g.10639736C>T GRCh38
NC_000017.10:g.10543053C>T , CM000679.1:g.10543053C>T GRCh37
NC_000017.9:g.10483778C>T NCBI36
NG_011537.1:g.22563G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.2749G>A MANE Select ENSP00000464317.1:p.Glu917Lys
ENST00000583535.5:c.2749G>A ENSP00000464317.1:p.Glu917Lys
NM_002470.3:c.2749G>A NP_002461.2:p.Glu917Lys
XM_011523870.1:c.2749G>A XP_011522172.1:p.Glu917Lys
XM_011523871.1:c.2749G>A XP_011522173.1:p.Glu917Lys
XM_011523872.1:c.2749G>A XP_011522174.1:p.Glu917Lys
XM_011523870.3:c.2749G>A XP_011522172.1:p.Glu917Lys
XM_011523871.2:c.2749G>A XP_011522173.1:p.Glu917Lys
NM_002470.4:c.2749G>A MANE Select NP_002461.2:p.Glu917Lys
Search 100 bp 5'
Search 100 bp 3'