Canonical Allele Identifier: CA8387988

Gene: MYH8 MYHAS

Linked Data

• ClinVar Variation Id: 321646
• ClinVar RCV Id: RCV000300494 ; RCV000964359
• dbSNP Id: rs75160168
• ExAC: 17:10312762 C / G
• gnomAD v2: 17-10312762-C-G
• gnomAD v3: 17-10409445-C-G
• gnomAD v4: 17-10409445-C-G
• MyVariant Identifiers: chr17:g.10312762C>G (hg19) ; chr17:g.10409445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10409445C>G , CM000679.2:g.10409445C>G	GRCh38
NC_000017.10:g.10312762C>G , CM000679.1:g.10312762C>G	GRCh37
NC_000017.9:g.10253487C>G	NCBI36
NG_013015.1:g.17506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403437.2:c.1731G>C (MYH8) MANE Select	ENSP00000384330.2:p.Glu577Asp
NM_002472.2:c.1731G>C (MYH8)	NP_002463.2:p.Glu577Asp
NR_125367.1:n.167+3207C>G (MYHAS)
XM_011523873.1:c.1731G>C (MYH8)	XP_011522175.1:p.Glu577Asp
XM_011523874.1:c.1731G>C (MYH8)	XP_011522176.1:p.Glu577Asp
NM_002472.3:c.1731G>C (MYH8) MANE Select	NP_002463.2:p.Glu577Asp