Canonical Allele Identifier: CA9592748

Gene: MYH14

Linked Data

• ClinVar Variation Id: 228871
• ClinVar RCV Id: RCV000214901 ; RCV001133104 ; RCV001505041 ; RCV003929907
• dbSNP Id: rs199696801
• ExAC: 19:50755984 G / A
• gnomAD v2: 19-50755984-G-A
• gnomAD v3: 19-50252727-G-A
• gnomAD v4: 19-50252727-G-A
• MyVariant Identifiers: chr19:g.50755984G>A (hg19) ; chr19:g.50252727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50252727G>A , CM000681.2:g.50252727G>A	GRCh38
NC_000019.9:g.50755984G>A , CM000681.1:g.50755984G>A	GRCh37
NC_000019.8:g.55447796G>A	NCBI36
NG_011645.1:g.54100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.1919G>A	ENSP00000407879.1:p.Arg640Gln
ENST00000642316.2:c.1919G>A MANE Select	ENSP00000493594.1:p.Arg640Gln
ENST00000376970.6:c.1895G>A	ENSP00000366169.3:p.Arg632Gln
ENST00000425460.5:c.1919G>A	ENSP00000407879.1:p.Arg640Gln
ENST00000440075.6:c.-728+2973G>A	ENSP00000406273.3:n.-728+2973G>A
ENST00000596571.5:c.1895G>A	ENSP00000472819.1:p.Arg632Gln
ENST00000598205.5:c.1919G>A	ENSP00000472543.1:p.Arg640Gln
ENST00000599920.5:c.1919G>A	ENSP00000469573.1:p.Arg640Gln
ENST00000601313.5:c.1919G>A	ENSP00000470298.1:p.Arg640Gln
NM_001077186.1:c.1919G>A	NP_001070654.1:p.Arg640Gln
NM_001145809.1:c.1919G>A	NP_001139281.1:p.Arg640Gln
NM_024729.3:c.1895G>A	NP_079005.3:p.Arg632Gln
XM_006723386.2:c.1919G>A	XP_006723449.1:p.Arg640Gln
XM_011527320.1:c.2039G>A	XP_011525622.1:p.Arg680Gln
XM_011527321.1:c.2015G>A	XP_011525623.1:p.Arg672Gln
XM_011527322.1:c.1943G>A	XP_011525624.1:p.Arg648Gln
XM_011527323.1:c.1919G>A	XP_011525625.1:p.Arg640Gln
XM_006723386.4:c.1919G>A	XP_006723449.1:p.Arg640Gln
XM_011527320.2:c.2039G>A	XP_011525622.1:p.Arg680Gln
XM_011527321.2:c.2015G>A	XP_011525623.1:p.Arg672Gln
XM_011527323.2:c.1919G>A	XP_011525625.1:p.Arg640Gln
XM_024451721.1:c.1895G>A	XP_024307489.1:p.Arg632Gln
NM_001077186.2:c.1919G>A	NP_001070654.1:p.Arg640Gln
NM_001145809.2:c.1919G>A MANE Select	NP_001139281.1:p.Arg640Gln
NM_024729.4:c.1895G>A	NP_079005.3:p.Arg632Gln