Canonical Allele Identifier: CA8393360

Gene: MYH3

Linked Data

• ClinVar Variation Id: 321772
• ClinVar RCV Id: RCV000306539 ; RCV000365909 ; RCV000875844 ; RCV001820962 ; RCV004537812
• dbSNP Id: rs147410236
• ExAC: 17:10555833 C / T
• gnomAD v2: 17-10555833-C-T
• gnomAD v3: 17-10652516-C-T
• gnomAD v4: 17-10652516-C-T
• COSMIC: COSM705051
• MyVariant Identifiers: chr17:g.10555833C>T (hg19) ; chr17:g.10652516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10652516C>T , CM000679.2:g.10652516C>T	GRCh38
NC_000017.10:g.10555833C>T , CM000679.1:g.10555833C>T	GRCh37
NC_000017.9:g.10496558C>T	NCBI36
NG_011537.1:g.9783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.252G>A MANE Select	ENSP00000464317.1:p.Lys84=
ENST00000582580.1:n.340G>A
ENST00000583535.5:c.252G>A	ENSP00000464317.1:p.Lys84=
NM_002470.3:c.252G>A	NP_002461.2:p.Lys84=
XM_011523870.1:c.252G>A	XP_011522172.1:p.Lys84=
XM_011523871.1:c.252G>A	XP_011522173.1:p.Lys84=
XM_011523872.1:c.252G>A	XP_011522174.1:p.Lys84=
XM_011523870.3:c.252G>A	XP_011522172.1:p.Lys84=
XM_011523871.2:c.252G>A	XP_011522173.1:p.Lys84=
NM_002470.4:c.252G>A MANE Select	NP_002461.2:p.Lys84=