Canonical Allele Identifier: CA2631831438

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948399-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948399G>T , CM000678.2:g.13948399G>T	GRCh38
NC_000016.9:g.14042256G>T , CM000678.1:g.14042256G>T	GRCh37
NC_000016.8:g.13949757G>T	NCBI36
NG_011442.1:g.33243G>T , LRG_463:g.33243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*52G>T	ENSP00000507912.1:n.*52G>T
ENST00000683962.1:c.*2497G>T	ENSP00000506854.1:n.*2497G>T
ENST00000311895.8:c.*52G>T MANE Select	ENSP00000310520.7:n.*52G>T
ENST00000311895.7:c.*52G>T	ENSP00000310520.7:n.*52G>T
ENST00000389138.7:n.2080G>T
NM_005236.2:c.*52G>T , LRG_463t1:c.*52G>T	NP_005227.1:n.*52G>T
XM_011522424.1:c.*52G>T	XP_011520726.1:n.*52G>T
XM_011522425.1:c.*52G>T	XP_011520727.1:n.*52G>T
XM_011522426.1:c.*52G>T	XP_011520728.1:n.*52G>T
XM_011522427.1:c.*52G>T	XP_011520729.1:n.*52G>T
XR_932805.1:n.2962G>T
XM_011522424.3:c.*52G>T	XP_011520726.1:n.*52G>T
XM_017023043.2:c.*52G>T	XP_016878532.1:n.*52G>T
NM_005236.3:c.*52G>T MANE Select	NP_005227.1:n.*52G>T