Canonical Allele Identifier: CA174419

Gene: MYH8 MYHAS

Linked Data

• ClinVar Variation Id: 161597
• ClinVar RCV Id: RCV000149133
• dbSNP Id: rs193920854
• COSMIC: COSM1179902
• MyVariant Identifiers: chr17:g.10309451C>A (hg19) ; chr17:g.10406134C>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10406134C>A , CM000679.2:g.10406134C>A	GRCh38
NC_000017.10:g.10309451C>A , CM000679.1:g.10309451C>A	GRCh37
NC_000017.9:g.10250176C>A	NCBI36
NG_013015.1:g.20817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403437.2:c.2339G>T (MYH8) MANE Select	ENSP00000384330.2:p.Arg780Ile
NM_002472.2:c.2339G>T (MYH8)	NP_002463.2:p.Arg780Ile
NR_125367.1:n.77-14C>A (MYHAS)
XM_011523873.1:c.2435G>T (MYH8)	XP_011522175.1:p.Arg812Ile
XM_011523874.1:c.2435G>T (MYH8)	XP_011522176.1:p.Arg812Ile
NM_002472.3:c.2339G>T (MYH8) MANE Select	NP_002463.2:p.Arg780Ile