Canonical Allele Identifier: CA209607

Gene: MYH3

Linked Data

• ClinVar Variation Id: 211557
• ClinVar RCV Id: RCV000195045 ; RCV001127113 ; RCV000662290 ; RCV001522905 ; RCV004541247
• dbSNP Id: rs139480342
• ExAC: 17:10550522 G / C
• gnomAD v2: 17-10550522-G-C
• gnomAD v3: 17-10647205-G-C
• gnomAD v4: 17-10647205-G-C
• MyVariant Identifiers: chr17:g.10550522G>C (hg19) ; chr17:g.10647205G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10647205G>C , CM000679.2:g.10647205G>C	GRCh38
NC_000017.10:g.10550522G>C , CM000679.1:g.10550522G>C	GRCh37
NC_000017.9:g.10491247G>C	NCBI36
NG_011537.1:g.15094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.875C>G MANE Select	ENSP00000464317.1:p.Ser292Cys
ENST00000583535.5:c.875C>G	ENSP00000464317.1:p.Ser292Cys
NM_002470.3:c.875C>G	NP_002461.2:p.Ser292Cys
XM_011523870.1:c.875C>G	XP_011522172.1:p.Ser292Cys
XM_011523871.1:c.875C>G	XP_011522173.1:p.Ser292Cys
XM_011523872.1:c.875C>G	XP_011522174.1:p.Ser292Cys
XM_011523870.3:c.875C>G	XP_011522172.1:p.Ser292Cys
XM_011523871.2:c.875C>G	XP_011522173.1:p.Ser292Cys
NM_002470.4:c.875C>G MANE Select	NP_002461.2:p.Ser292Cys