Canonical Allele Identifier: CA394822401

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041642G>T (hg19) ; chr16:g.13947785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947785G>T , CM000678.2:g.13947785G>T	GRCh38
NC_000016.9:g.14041642G>T , CM000678.1:g.14041642G>T	GRCh37
NC_000016.8:g.13949143G>T	NCBI36
NG_011442.1:g.32629G>T , LRG_463:g.32629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2327G>T	ENSP00000507912.1:p.Ser776Ile
ENST00000683962.1:c.*1883G>T	ENSP00000506854.1:n.*1883G>T
ENST00000311895.8:c.2189G>T MANE Select	ENSP00000310520.7:p.Ser730Ile
ENST00000311895.7:c.2189G>T	ENSP00000310520.7:p.Ser730Ile
ENST00000389138.7:n.1466G>T
ENST00000462862.1:c.502G>T	ENSP00000461322.1:n.502G>T
NM_005236.2:c.2189G>T , LRG_463t1:c.2189G>T	NP_005227.1:p.Ser730Ile
XM_011522424.1:c.2327G>T	XP_011520726.1:p.Ser776Ile
XM_011522425.1:c.1646G>T	XP_011520727.1:p.Ser549Ile
XM_011522426.1:c.1400G>T	XP_011520728.1:p.Ser467Ile
XM_011522427.1:c.839G>T	XP_011520729.1:p.Ser280Ile
XR_932805.1:n.2348G>T
XM_011522424.3:c.2327G>T	XP_011520726.1:p.Ser776Ile
XM_017023043.2:c.1400G>T	XP_016878532.1:p.Ser467Ile
NM_005236.3:c.2189G>T MANE Select	NP_005227.1:p.Ser730Ile