Canonical Allele Identifier: CA8392648

Gene: MYH3

Linked Data

• ClinVar Variation Id: 258677
• ClinVar RCV Id: RCV000338533 ; RCV000406863 ; RCV000873838 ; RCV004529429
• dbSNP Id: rs188588330
• ExAC: 17:10542799 G / A
• gnomAD v2: 17-10542799-G-A
• gnomAD v3: 17-10639482-G-A
• gnomAD v4: 17-10639482-G-A
• MyVariant Identifiers: chr17:g.10542799G>A (hg19) ; chr17:g.10639482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639482G>A , CM000679.2:g.10639482G>A	GRCh38
NC_000017.10:g.10542799G>A , CM000679.1:g.10542799G>A	GRCh37
NC_000017.9:g.10483524G>A	NCBI36
NG_011537.1:g.22817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2926-8C>T MANE Select	ENSP00000464317.1:n.2926-8C>T
ENST00000583535.5:c.2926-8C>T	ENSP00000464317.1:n.2926-8C>T
NM_002470.3:c.2926-8C>T	NP_002461.2:n.2926-8C>T
XM_011523870.1:c.2926-8C>T	XP_011522172.1:n.2926-8C>T
XM_011523871.1:c.2926-8C>T	XP_011522173.1:n.2926-8C>T
XM_011523872.1:c.2926-8C>T	XP_011522174.1:n.2926-8C>T
XM_011523870.3:c.2926-8C>T	XP_011522172.1:n.2926-8C>T
XM_011523871.2:c.2926-8C>T	XP_011522173.1:n.2926-8C>T
NM_002470.4:c.2926-8C>T MANE Select	NP_002461.2:n.2926-8C>T