Canonical Allele Identifier: CA8392650

Gene: MYH3

Linked Data

• ClinVar Variation Id: 258676
• ClinVar RCV Id: RCV000249395 ; RCV000298909 ; RCV000370100
• dbSNP Id: rs2285473
• ExAC: 17:10542803 T / C
• gnomAD v2: 17-10542803-T-C
• gnomAD v3: 17-10639486-T-C
• gnomAD v4: 17-10639486-T-C
• MyVariant Identifiers: chr17:g.10542803T>C (hg19) ; chr17:g.10639486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639486T>C , CM000679.2:g.10639486T>C	GRCh38
NC_000017.10:g.10542803T>C , CM000679.1:g.10542803T>C	GRCh37
NC_000017.9:g.10483528T>C	NCBI36
NG_011537.1:g.22813A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000583535.6:c.2926-12A>G MANE Select	ENSP00000464317.1:n.2926-12A>G
ENST00000583535.5:c.2926-12A>G	ENSP00000464317.1:n.2926-12A>G
NM_002470.3:c.2926-12A>G	NP_002461.2:n.2926-12A>G
XM_011523870.1:c.2926-12A>G	XP_011522172.1:n.2926-12A>G
XM_011523871.1:c.2926-12A>G	XP_011522173.1:n.2926-12A>G
XM_011523872.1:c.2926-12A>G	XP_011522174.1:n.2926-12A>G
XM_011523870.3:c.2926-12A>G	XP_011522172.1:n.2926-12A>G
XM_011523871.2:c.2926-12A>G	XP_011522173.1:n.2926-12A>G
NM_002470.4:c.2926-12A>G MANE Select	NP_002461.2:n.2926-12A>G