Canonical Allele Identifier: CA8388313

Gene: MYH8 MYHAS

Linked Data

• ClinVar Variation Id: 321655
• ClinVar RCV Id: RCV000279822 ; RCV000502525 ; RCV000966459
• dbSNP Id: rs145863180
• ExAC: 17:10318859 C / T
• gnomAD v2: 17-10318859-C-T
• gnomAD v3: 17-10415542-C-T
• gnomAD v4: 17-10415542-C-T
• MyVariant Identifiers: chr17:g.10318859C>T (hg19) ; chr17:g.10415542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10415542C>T , CM000679.2:g.10415542C>T	GRCh38
NC_000017.10:g.10318859C>T , CM000679.1:g.10318859C>T	GRCh37
NC_000017.9:g.10259584C>T	NCBI36
NG_013015.1:g.11409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403437.2:c.578G>A (MYH8) MANE Select	ENSP00000384330.2:p.Arg193His
NM_002472.2:c.578G>A (MYH8)	NP_002463.2:p.Arg193His
NR_125367.1:n.167+9304C>T (MYHAS)
XM_011523873.1:c.578G>A (MYH8)	XP_011522175.1:p.Arg193His
XM_011523874.1:c.578G>A (MYH8)	XP_011522176.1:p.Arg193His
NM_002472.3:c.578G>A (MYH8) MANE Select	NP_002463.2:p.Arg193His