Canonical Allele Identifier: CA184565

Gene: MYH14

Linked Data

• ClinVar Variation Id: 179510
• ClinVar RCV Id: RCV000156300 ; RCV001375354 ; RCV003162638 ; RCV003335137
• dbSNP Id: rs727504915
• ExAC: 19:50783349 G / A
• gnomAD v2: 19-50783349-G-A
• gnomAD v3: 19-50280092-G-A
• gnomAD v4: 19-50280092-G-A
• MyVariant Identifiers: chr19:g.50783349G>A (hg19) ; chr19:g.50280092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50280092G>A , CM000681.2:g.50280092G>A	GRCh38
NC_000019.9:g.50783349G>A , CM000681.1:g.50783349G>A	GRCh37
NC_000019.8:g.55475161G>A	NCBI36
NG_011645.1:g.81465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.3989G>A	ENSP00000407879.1:p.Arg1330His
ENST00000642316.2:c.4088G>A MANE Select	ENSP00000493594.1:p.Arg1363His
ENST00000262269.12:c.977G>A	ENSP00000262269.9:p.Arg326His
ENST00000376970.6:c.3965G>A	ENSP00000366169.3:p.Arg1322His
ENST00000425460.5:c.3989G>A	ENSP00000407879.1:p.Arg1330His
ENST00000440075.6:c.-107G>A	ENSP00000406273.3:n.-107G>A
ENST00000596571.5:c.3965G>A	ENSP00000472819.1:p.Arg1322His
ENST00000598205.5:c.3989G>A	ENSP00000472543.1:p.Arg1330His
ENST00000601313.5:c.4088G>A	ENSP00000470298.1:p.Arg1363His
NM_001077186.1:c.3989G>A	NP_001070654.1:p.Arg1330His
NM_001145809.1:c.4088G>A	NP_001139281.1:p.Arg1363His
NM_024729.3:c.3965G>A	NP_079005.3:p.Arg1322His
XM_006723386.2:c.3989G>A	XP_006723449.1:p.Arg1330His
XM_011527320.1:c.4109G>A	XP_011525622.1:p.Arg1370His
XM_011527321.1:c.4085G>A	XP_011525623.1:p.Arg1362His
XM_011527322.1:c.4013G>A	XP_011525624.1:p.Arg1338His
XM_011527323.1:c.3989G>A	XP_011525625.1:p.Arg1330His
XM_006723386.4:c.3989G>A	XP_006723449.1:p.Arg1330His
XM_011527320.2:c.4109G>A	XP_011525622.1:p.Arg1370His
XM_011527321.2:c.4085G>A	XP_011525623.1:p.Arg1362His
XM_011527323.2:c.3989G>A	XP_011525625.1:p.Arg1330His
XM_024451721.1:c.3965G>A	XP_024307489.1:p.Arg1322His
NM_001077186.2:c.3989G>A	NP_001070654.1:p.Arg1330His
NM_001145809.2:c.4088G>A MANE Select	NP_001139281.1:p.Arg1363His
NM_024729.4:c.3965G>A	NP_079005.3:p.Arg1322His