Canonical Allele Identifier: CA493689847

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032270077
• gnomAD v3: 16-13935522-G-A
• gnomAD v4: 16-13935522-G-A
• MyVariant Identifiers: chr16:g.14029379G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935522G>A , CM000678.2:g.13935522G>A	GRCh38
NC_000016.9:g.14029379G>A , CM000678.1:g.14029379G>A	GRCh37
NC_000016.8:g.13936880G>A	NCBI36
NG_011442.1:g.20366G>A , LRG_463:g.20366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1668G>A
ENST00000682617.1:c.1728G>A	ENSP00000507912.1:p.Lys576=
ENST00000682826.1:c.*904G>A	ENSP00000507274.1:n.*904G>A
ENST00000682909.1:n.3630G>A
ENST00000683277.1:n.3235G>A
ENST00000683407.1:n.1598G>A
ENST00000683962.1:c.*1284G>A	ENSP00000506854.1:n.*1284G>A
ENST00000311895.8:c.1590G>A MANE Select	ENSP00000310520.7:p.Lys530=
ENST00000311895.7:c.1590G>A	ENSP00000310520.7:p.Lys530=
ENST00000389138.7:n.867G>A
NM_005236.2:c.1590G>A , LRG_463t1:c.1590G>A	NP_005227.1:p.Lys530=
XM_011522424.1:c.1728G>A	XP_011520726.1:p.Lys576=
XM_011522425.1:c.1047G>A	XP_011520727.1:p.Lys349=
XM_011522426.1:c.801G>A	XP_011520728.1:p.Lys267=
XM_011522427.1:c.240G>A	XP_011520729.1:p.Lys80=
XR_932805.1:n.1749G>A
XM_011522424.3:c.1728G>A	XP_011520726.1:p.Lys576=
XM_017023043.2:c.801G>A	XP_016878532.1:p.Lys267=
NM_005236.3:c.1590G>A MANE Select	NP_005227.1:p.Lys530=