Canonical Allele Identifier: CA493444439

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947636-A-C
• MyVariant Identifiers: chr16:g.14041493A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947636A>C , CM000678.2:g.13947636A>C	GRCh38
NC_000016.9:g.14041493A>C , CM000678.1:g.14041493A>C	GRCh37
NC_000016.8:g.13948994A>C	NCBI36
NG_011442.1:g.32480A>C , LRG_463:g.32480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2178A>C	ENSP00000507912.1:p.Thr726=
ENST00000683962.1:c.*1734A>C	ENSP00000506854.1:n.*1734A>C
ENST00000311895.8:c.2040A>C MANE Select	ENSP00000310520.7:p.Thr680=
ENST00000311895.7:c.2040A>C	ENSP00000310520.7:p.Thr680=
ENST00000389138.7:n.1317A>C
ENST00000462862.1:c.353A>C	ENSP00000461322.1:n.353A>C
NM_005236.2:c.2040A>C , LRG_463t1:c.2040A>C	NP_005227.1:p.Thr680=
XM_011522424.1:c.2178A>C	XP_011520726.1:p.Thr726=
XM_011522425.1:c.1497A>C	XP_011520727.1:p.Thr499=
XM_011522426.1:c.1251A>C	XP_011520728.1:p.Thr417=
XM_011522427.1:c.690A>C	XP_011520729.1:p.Thr230=
XR_932805.1:n.2199A>C
XM_011522424.3:c.2178A>C	XP_011520726.1:p.Thr726=
XM_017023043.2:c.1251A>C	XP_016878532.1:p.Thr417=
NM_005236.3:c.2040A>C MANE Select	NP_005227.1:p.Thr680=