Canonical Allele Identifier: CA8391762
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 321706
ClinVar RCV Id: RCV000321921 RCV000376097
dbSNP Id: rs372305218
ExAC: 17:10531931 C / T
gnomAD v2: 17-10531931-C-T
gnomAD v3: 17-10628614-C-T
gnomAD v4: 17-10628614-C-T
MyVariant Identifiers: chr17:g.10531931C>T (hg19) chr17:g.10628614C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10628614C>T , CM000679.2:g.10628614C>T GRCh38
NC_000017.10:g.10531931C>T , CM000679.1:g.10531931C>T GRCh37
NC_000017.9:g.10472656C>T NCBI36
NG_011537.1:g.33685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.*39G>A MANE Select ENSP00000464317.1:n.*39G>A
ENST00000577963.1:n.404G>A
ENST00000579928.2:n.392G>A
ENST00000583535.5:c.*39G>A ENSP00000464317.1:n.*39G>A
NM_002470.3:c.*39G>A NP_002461.2:n.*39G>A
XM_011523870.1:c.*39G>A XP_011522172.1:n.*39G>A
XM_011523871.1:c.*39G>A XP_011522173.1:n.*39G>A
XM_011523870.3:c.*39G>A XP_011522172.1:n.*39G>A
XM_011523871.2:c.*39G>A XP_011522173.1:n.*39G>A
NM_002470.4:c.*39G>A MANE Select NP_002461.2:n.*39G>A
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