Canonical Allele Identifier: CA394812630

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935689-C-T
• MyVariant Identifiers: chr16:g.14029546C>T (hg19) ; chr16:g.13935689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935689C>T , CM000678.2:g.13935689C>T	GRCh38
NC_000016.9:g.14029546C>T , CM000678.1:g.14029546C>T	GRCh37
NC_000016.8:g.13937047C>T	NCBI36
NG_011442.1:g.20533C>T , LRG_463:g.20533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1835C>T
ENST00000682617.1:c.1895C>T	ENSP00000507912.1:p.Thr632Ile
ENST00000682826.1:c.*1071C>T	ENSP00000507274.1:n.*1071C>T
ENST00000682909.1:n.3797C>T
ENST00000683277.1:n.3402C>T
ENST00000683407.1:n.1765C>T
ENST00000683962.1:c.*1451C>T	ENSP00000506854.1:n.*1451C>T
ENST00000311895.8:c.1757C>T MANE Select	ENSP00000310520.7:p.Thr586Ile
ENST00000311895.7:c.1757C>T	ENSP00000310520.7:p.Thr586Ile
ENST00000389138.7:n.1034C>T
NM_005236.2:c.1757C>T , LRG_463t1:c.1757C>T	NP_005227.1:p.Thr586Ile
XM_011522424.1:c.1895C>T	XP_011520726.1:p.Thr632Ile
XM_011522425.1:c.1214C>T	XP_011520727.1:p.Thr405Ile
XM_011522426.1:c.968C>T	XP_011520728.1:p.Thr323Ile
XM_011522427.1:c.407C>T	XP_011520729.1:p.Thr136Ile
XR_932805.1:n.1916C>T
XM_011522424.3:c.1895C>T	XP_011520726.1:p.Thr632Ile
XM_017023043.2:c.968C>T	XP_016878532.1:p.Thr323Ile
NM_005236.3:c.1757C>T MANE Select	NP_005227.1:p.Thr586Ile