Canonical Allele Identifier: CA394804499

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141948519
• gnomAD v4: 16-13930800-C-A
• MyVariant Identifiers: chr16:g.14024657C>A (hg19) ; chr16:g.13930800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930800C>A , CM000678.2:g.13930800C>A	GRCh38
NC_000016.9:g.14024657C>A , CM000678.1:g.14024657C>A	GRCh37
NC_000016.8:g.13932158C>A	NCBI36
NG_011442.1:g.15644C>A , LRG_463:g.15644C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.871C>A
ENST00000682568.1:n.961C>A
ENST00000682617.1:c.1021C>A	ENSP00000507912.1:p.Leu341Met
ENST00000682826.1:c.*197C>A	ENSP00000507274.1:n.*197C>A
ENST00000682909.1:n.2923C>A
ENST00000683277.1:n.2528C>A
ENST00000683407.1:n.891C>A
ENST00000683962.1:c.*577C>A	ENSP00000506854.1:n.*577C>A
ENST00000311895.8:c.883C>A MANE Select	ENSP00000310520.7:p.Leu295Met
ENST00000311895.7:c.883C>A	ENSP00000310520.7:p.Leu295Met
ENST00000574194.1:c.410C>A
ENST00000574781.1:n.560C>A
ENST00000575156.5:c.883C>A	ENSP00000459933.1:p.Leu295Met
NM_005236.2:c.883C>A , LRG_463t1:c.883C>A	NP_005227.1:p.Leu295Met
XM_011522424.1:c.1021C>A	XP_011520726.1:p.Leu341Met
XM_011522425.1:c.340C>A	XP_011520727.1:p.Leu114Met
XM_011522426.1:c.94C>A	XP_011520728.1:p.Leu32Met
XR_932805.1:n.1042C>A
XM_011522424.3:c.1021C>A	XP_011520726.1:p.Leu341Met
XM_017023043.2:c.94C>A	XP_016878532.1:p.Leu32Met
NM_005236.3:c.883C>A MANE Select	NP_005227.1:p.Leu295Met