Canonical Allele Identifier: CA718303291

Gene: ERCC4

Linked Data

• dbSNP Id: rs988197887
• gnomAD v4: 16-13944621-G-A
• MyVariant Identifiers: chr16:g.14038478G>A (hg19) ; chr16:g.13944621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944621G>A , CM000678.2:g.13944621G>A	GRCh38
NC_000016.9:g.14038478G>A , CM000678.1:g.14038478G>A	GRCh37
NC_000016.8:g.13945979G>A	NCBI36
NG_011442.1:g.29465G>A , LRG_463:g.29465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-102G>A	ENSP00000507912.1:n.2043-102G>A
ENST00000683962.1:c.*1599-102G>A	ENSP00000506854.1:n.*1599-102G>A
ENST00000311895.8:c.1905-102G>A MANE Select	ENSP00000310520.7:n.1905-102G>A
ENST00000311895.7:c.1905-102G>A	ENSP00000310520.7:n.1905-102G>A
ENST00000389138.7:n.1182-102G>A
ENST00000462862.1:c.218-102G>A	ENSP00000461322.1:n.218-102G>A
NM_005236.2:c.1905-102G>A , LRG_463t1:c.1905-102G>A	NP_005227.1:n.1905-102G>A
XM_011522424.1:c.2043-102G>A	XP_011520726.1:n.2043-102G>A
XM_011522425.1:c.1362-102G>A	XP_011520727.1:n.1362-102G>A
XM_011522426.1:c.1116-102G>A	XP_011520728.1:n.1116-102G>A
XM_011522427.1:c.555-102G>A	XP_011520729.1:n.555-102G>A
XR_932805.1:n.2064-102G>A
XM_011522424.3:c.2043-102G>A	XP_011520726.1:n.2043-102G>A
XM_017023043.2:c.1116-102G>A	XP_016878532.1:n.1116-102G>A
NM_005236.3:c.1905-102G>A MANE Select	NP_005227.1:n.1905-102G>A