Canonical Allele Identifier: CA8387419

Linked Data

ClinVar Variation Id: 225416
ClinVar RCV Id: RCV000490328
dbSNP Id: rs150008607

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10398875G>A , CM000679.2:g.10398875G>A GRCh38
NC_000017.10:g.10302192G>A , CM000679.1:g.10302192G>A GRCh37
NC_000017.9:g.10242917G>A NCBI36
NG_013015.1:g.28076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.3874C>T (MYH8) MANE Select ENSP00000384330.2:p.Arg1292Ter
NM_002472.2:c.3874C>T (MYH8) NP_002463.2:p.Arg1292Ter
NR_125367.1:n.77-7273G>A (MYHAS)
XM_011523873.1:c.3970C>T (MYH8) XP_011522175.1:p.Arg1324Ter
XM_011523874.1:c.3970C>T (MYH8) XP_011522176.1:p.Arg1324Ter
NM_002472.3:c.3874C>T (MYH8) MANE Select NP_002463.2:p.Arg1292Ter