Canonical Allele Identifier: CA8392691

Gene: MYH3

Linked Data

• ClinVar Variation Id: 891299
• ClinVar RCV Id: RCV001126502 ; RCV001126503
• dbSNP Id: rs367709724
• ExAC: 17:10543086 A / T
• gnomAD v2: 17-10543086-A-T
• gnomAD v3: 17-10639769-A-T
• gnomAD v4: 17-10639769-A-T
• MyVariant Identifiers: chr17:g.10543086A>T (hg19) ; chr17:g.10639769A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639769A>T , CM000679.2:g.10639769A>T	GRCh38
NC_000017.10:g.10543086A>T , CM000679.1:g.10543086A>T	GRCh37
NC_000017.9:g.10483811A>T	NCBI36
NG_011537.1:g.22530T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2716T>A MANE Select	ENSP00000464317.1:p.Cys906Ser
ENST00000583535.5:c.2716T>A	ENSP00000464317.1:p.Cys906Ser
NM_002470.3:c.2716T>A	NP_002461.2:p.Cys906Ser
XM_011523870.1:c.2716T>A	XP_011522172.1:p.Cys906Ser
XM_011523871.1:c.2716T>A	XP_011522173.1:p.Cys906Ser
XM_011523872.1:c.2716T>A	XP_011522174.1:p.Cys906Ser
XM_011523870.3:c.2716T>A	XP_011522172.1:p.Cys906Ser
XM_011523871.2:c.2716T>A	XP_011522173.1:p.Cys906Ser
NM_002470.4:c.2716T>A MANE Select	NP_002461.2:p.Cys906Ser