Canonical Allele Identifier: CA9593557

Gene: MYH14

Linked Data

• ClinVar Variation Id: 329941
• ClinVar RCV Id: RCV001731610
• dbSNP Id: rs752388019
• ExAC: 19:50789809 G / A
• gnomAD v2: 19-50789809-G-A
• gnomAD v3: 19-50286552-G-A
• gnomAD v4: 19-50286552-G-A
• COSMIC: COSM4704587 ; COSM4704588
• MyVariant Identifiers: chr19:g.50789809G>A (hg19) ; chr19:g.50286552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50286552G>A , CM000681.2:g.50286552G>A	GRCh38
NC_000019.9:g.50789809G>A , CM000681.1:g.50789809G>A	GRCh37
NC_000019.8:g.55481621G>A	NCBI36
NG_011645.1:g.87925G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425460.6:c.4511G>A	ENSP00000407879.1:p.Arg1504Gln
ENST00000642316.2:c.4610G>A MANE Select	ENSP00000493594.1:p.Arg1537Gln
ENST00000262269.12:c.1498G>A	ENSP00000262269.9:p.Gly500Arg
ENST00000376970.6:c.4487G>A	ENSP00000366169.3:p.Arg1496Gln
ENST00000425460.5:c.4511G>A	ENSP00000407879.1:p.Arg1504Gln
ENST00000440075.6:c.416G>A	ENSP00000406273.3:p.Arg139Gln
ENST00000595016.1:n.1789G>A
ENST00000596571.5:c.4487G>A	ENSP00000472819.1:p.Arg1496Gln
ENST00000598205.5:c.4511G>A	ENSP00000472543.1:p.Arg1504Gln
ENST00000601313.5:c.4610G>A	ENSP00000470298.1:p.Arg1537Gln
NM_001077186.1:c.4511G>A	NP_001070654.1:p.Arg1504Gln
NM_001145809.1:c.4610G>A	NP_001139281.1:p.Arg1537Gln
NM_024729.3:c.4487G>A	NP_079005.3:p.Arg1496Gln
XM_006723386.2:c.4511G>A	XP_006723449.1:p.Arg1504Gln
XM_011527320.1:c.4631G>A	XP_011525622.1:p.Arg1544Gln
XM_011527321.1:c.4607G>A	XP_011525623.1:p.Arg1536Gln
XM_011527322.1:c.4535G>A	XP_011525624.1:p.Arg1512Gln
XM_011527323.1:c.4511G>A	XP_011525625.1:p.Arg1504Gln
XM_006723386.4:c.4511G>A	XP_006723449.1:p.Arg1504Gln
XM_011527320.2:c.4631G>A	XP_011525622.1:p.Arg1544Gln
XM_011527321.2:c.4607G>A	XP_011525623.1:p.Arg1536Gln
XM_011527323.2:c.4511G>A	XP_011525625.1:p.Arg1504Gln
XM_024451721.1:c.4487G>A	XP_024307489.1:p.Arg1496Gln
NM_001077186.2:c.4511G>A	NP_001070654.1:p.Arg1504Gln
NM_001145809.2:c.4610G>A MANE Select	NP_001139281.1:p.Arg1537Gln
NM_024729.4:c.4487G>A	NP_079005.3:p.Arg1496Gln