Canonical Allele Identifier: CA8622737

Gene: MYL4

Linked Data

• ClinVar Variation Id: 542790
• ClinVar RCV Id: RCV000653291
• dbSNP Id: rs375241929
• ExAC: 17:45299140 G / A
• gnomAD v2: 17-45299140-G-A
• gnomAD v3: 17-47221774-G-A
• gnomAD v4: 17-47221774-G-A
• COSMIC: COSM3421648
• MyVariant Identifiers: chr17:g.45299140G>A (hg19) ; chr17:g.47221774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221774G>A , CM000679.2:g.47221774G>A	GRCh38
NC_000017.10:g.45299140G>A , CM000679.1:g.45299140G>A	GRCh37
NC_000017.9:g.42654139G>A	NCBI36
NG_052847.1:g.17758G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.406G>A	ENSP00000347055.1:p.Val136Met
ENST00000393450.5:c.406G>A MANE Select	ENSP00000377096.1:p.Val136Met
ENST00000536623.6:c.406G>A	ENSP00000442375.2:p.Val136Met
ENST00000570671.1:c.117G>A
ENST00000570772.5:c.*192G>A	ENSP00000458194.1:n.*192G>A
ENST00000571981.5:c.*192G>A	ENSP00000459035.1:n.*192G>A
ENST00000572303.1:c.499G>A	ENSP00000461747.1:p.Val167Met
ENST00000572316.5:c.406G>A	ENSP00000461570.1:p.Val136Met
ENST00000573747.6:c.*8G>A	ENSP00000460734.1:n.*8G>A
ENST00000576874.5:c.406G>A	ENSP00000458907.1:p.Val136Met
NM_001002841.1:c.406G>A	NP_001002841.1:p.Val136Met
NM_002476.2:c.406G>A MANE Select	NP_002467.1:p.Val136Met
XM_005257391.3:c.406G>A	XP_005257448.1:p.Val136Met
XM_011524838.1:c.406G>A	XP_011523140.1:p.Val136Met
XM_011524839.1:c.196G>A	XP_011523141.1:p.Val66Met
XM_005257391.5:c.406G>A	XP_005257448.1:p.Val136Met
XM_011524839.2:c.499G>A	XP_011523141.2:p.Val167Met
XM_017024683.1:c.499G>A	XP_016880172.1:p.Val167Met
XM_024450766.1:c.499G>A	XP_024306534.1:p.Val167Met
NM_001002841.2:c.406G>A	NP_001002841.1:p.Val136Met