Canonical Allele Identifier: CA291225206

Gene: MYL4

Linked Data

• ClinVar Variation Id: 542791
• ClinVar RCV Id: RCV000653292
• dbSNP Id: rs372826462
• gnomAD v2: 17-45297427-C-A
• gnomAD v3: 17-47220061-C-A
• gnomAD v4: 17-47220061-C-A
• MyVariant Identifiers: chr17:g.45297427C>A (hg19) ; chr17:g.47220061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47220061C>A , CM000679.2:g.47220061C>A	GRCh38
NC_000017.10:g.45297427C>A , CM000679.1:g.45297427C>A	GRCh37
NC_000017.9:g.42652426C>A	NCBI36
NG_052847.1:g.16045C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.313+8C>A	ENSP00000347055.1:n.313+8C>A
ENST00000393450.5:c.313+8C>A MANE Select	ENSP00000377096.1:n.313+8C>A
ENST00000536623.6:c.313+8C>A	ENSP00000442375.2:n.313+8C>A
ENST00000570671.1:c.24+8C>A
ENST00000570772.5:c.*99+8C>A	ENSP00000458194.1:n.*99+8C>A
ENST00000571981.5:c.*99+8C>A	ENSP00000459035.1:n.*99+8C>A
ENST00000572303.1:c.406+8C>A	ENSP00000461747.1:n.406+8C>A
ENST00000572316.5:c.313+8C>A	ENSP00000461570.1:n.313+8C>A
ENST00000573747.6:c.313+8C>A	ENSP00000460734.1:n.313+8C>A
ENST00000576874.5:c.313+8C>A	ENSP00000458907.1:n.313+8C>A
NM_001002841.1:c.313+8C>A	NP_001002841.1:n.313+8C>A
NM_002476.2:c.313+8C>A MANE Select	NP_002467.1:n.313+8C>A
XM_005257391.3:c.313+8C>A	XP_005257448.1:n.313+8C>A
XM_011524838.1:c.313+8C>A	XP_011523140.1:n.313+8C>A
XM_011524839.1:c.103+8C>A	XP_011523141.1:n.103+8C>A
XM_005257391.5:c.313+8C>A	XP_005257448.1:n.313+8C>A
XM_011524839.2:c.406+8C>A	XP_011523141.2:n.406+8C>A
XM_017024683.1:c.406+8C>A	XP_016880172.1:n.406+8C>A
XM_024450766.1:c.406+8C>A	XP_024306534.1:n.406+8C>A
NM_001002841.2:c.313+8C>A	NP_001002841.1:n.313+8C>A