Canonical Allele Identifier: CA394812183

Gene: ERCC4

Linked Data

• dbSNP Id: rs1567248147
• gnomAD v3: 16-13935583-C-A
• gnomAD v4: 16-13935583-C-A
• MyVariant Identifiers: chr16:g.14029440C>A (hg19) ; chr16:g.13935583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935583C>A , CM000678.2:g.13935583C>A	GRCh38
NC_000016.9:g.14029440C>A , CM000678.1:g.14029440C>A	GRCh37
NC_000016.8:g.13936941C>A	NCBI36
NG_011442.1:g.20427C>A , LRG_463:g.20427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1729C>A
ENST00000682617.1:c.1789C>A	ENSP00000507912.1:p.Leu597Ile
ENST00000682826.1:c.*965C>A	ENSP00000507274.1:n.*965C>A
ENST00000682909.1:n.3691C>A
ENST00000683277.1:n.3296C>A
ENST00000683407.1:n.1659C>A
ENST00000683962.1:c.*1345C>A	ENSP00000506854.1:n.*1345C>A
ENST00000311895.8:c.1651C>A MANE Select	ENSP00000310520.7:p.Leu551Ile
ENST00000311895.7:c.1651C>A	ENSP00000310520.7:p.Leu551Ile
ENST00000389138.7:n.928C>A
NM_005236.2:c.1651C>A , LRG_463t1:c.1651C>A	NP_005227.1:p.Leu551Ile
XM_011522424.1:c.1789C>A	XP_011520726.1:p.Leu597Ile
XM_011522425.1:c.1108C>A	XP_011520727.1:p.Leu370Ile
XM_011522426.1:c.862C>A	XP_011520728.1:p.Leu288Ile
XM_011522427.1:c.301C>A	XP_011520729.1:p.Leu101Ile
XR_932805.1:n.1810C>A
XM_011522424.3:c.1789C>A	XP_011520726.1:p.Leu597Ile
XM_017023043.2:c.862C>A	XP_016878532.1:p.Leu288Ile
NM_005236.3:c.1651C>A MANE Select	NP_005227.1:p.Leu551Ile