Canonical Allele Identifier: CA8392651

Gene: MYH3

Linked Data

• ClinVar Variation Id: 2723034
• ClinVar RCV Id: RCV003559180
• dbSNP Id: rs760426779
• ExAC: 17:10542804 C / T
• gnomAD v2: 17-10542804-C-T
• gnomAD v3: 17-10639487-C-T
• gnomAD v4: 17-10639487-C-T
• COSMIC: COSN19733375
• MyVariant Identifiers: chr17:g.10542804C>T (hg19) ; chr17:g.10639487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639487C>T , CM000679.2:g.10639487C>T	GRCh38
NC_000017.10:g.10542804C>T , CM000679.1:g.10542804C>T	GRCh37
NC_000017.9:g.10483529C>T	NCBI36
NG_011537.1:g.22812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2926-13G>A MANE Select	ENSP00000464317.1:n.2926-13G>A
ENST00000583535.5:c.2926-13G>A	ENSP00000464317.1:n.2926-13G>A
NM_002470.3:c.2926-13G>A	NP_002461.2:n.2926-13G>A
XM_011523870.1:c.2926-13G>A	XP_011522172.1:n.2926-13G>A
XM_011523871.1:c.2926-13G>A	XP_011522173.1:n.2926-13G>A
XM_011523872.1:c.2926-13G>A	XP_011522174.1:n.2926-13G>A
XM_011523870.3:c.2926-13G>A	XP_011522172.1:n.2926-13G>A
XM_011523871.2:c.2926-13G>A	XP_011522173.1:n.2926-13G>A
NM_002470.4:c.2926-13G>A MANE Select	NP_002461.2:n.2926-13G>A