Canonical Allele Identifier: CA153834

Gene: MYH8 MYHAS

Linked Data

• ClinVar Variation Id: 129680
• ClinVar RCV Id: RCV000117694 ; RCV000283465 ; RCV001689653
• dbSNP Id: rs8068729
• ExAC: 17:10318636 A / G
• gnomAD v2: 17-10318636-A-G
• gnomAD v3: 17-10415319-A-G
• gnomAD v4: 17-10415319-A-G
• MyVariant Identifiers: chr17:g.10318636A>G (hg19) ; chr17:g.10415319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10415319A>G , CM000679.2:g.10415319A>G	GRCh38
NC_000017.10:g.10318636A>G , CM000679.1:g.10318636A>G	GRCh37
NC_000017.9:g.10259361A>G	NCBI36
NG_013015.1:g.11632T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403437.2:c.714T>C (MYH8) MANE Select	ENSP00000384330.2:p.Thr238=
NM_002472.2:c.714T>C (MYH8)	NP_002463.2:p.Thr238=
NR_125367.1:n.167+9081A>G (MYHAS)
XM_011523873.1:c.714T>C (MYH8)	XP_011522175.1:p.Thr238=
XM_011523874.1:c.714T>C (MYH8)	XP_011522176.1:p.Thr238=
NM_002472.3:c.714T>C (MYH8) MANE Select	NP_002463.2:p.Thr238=