Canonical Allele Identifier: CA394824526

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948189-T-A
• MyVariant Identifiers: chr16:g.14042046T>A (hg19) ; chr16:g.13948189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948189T>A , CM000678.2:g.13948189T>A	GRCh38
NC_000016.9:g.14042046T>A , CM000678.1:g.14042046T>A	GRCh37
NC_000016.8:g.13949547T>A	NCBI36
NG_011442.1:g.33033T>A , LRG_463:g.33033T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2731T>A	ENSP00000507912.1:p.Ser911Thr
ENST00000683962.1:c.*2287T>A	ENSP00000506854.1:n.*2287T>A
ENST00000311895.8:c.2593T>A MANE Select	ENSP00000310520.7:p.Ser865Thr
ENST00000311895.7:c.2593T>A	ENSP00000310520.7:p.Ser865Thr
ENST00000389138.7:n.1870T>A
NM_005236.2:c.2593T>A , LRG_463t1:c.2593T>A	NP_005227.1:p.Ser865Thr
XM_011522424.1:c.2731T>A	XP_011520726.1:p.Ser911Thr
XM_011522425.1:c.2050T>A	XP_011520727.1:p.Ser684Thr
XM_011522426.1:c.1804T>A	XP_011520728.1:p.Ser602Thr
XM_011522427.1:c.1243T>A	XP_011520729.1:p.Ser415Thr
XR_932805.1:n.2752T>A
XM_011522424.3:c.2731T>A	XP_011520726.1:p.Ser911Thr
XM_017023043.2:c.1804T>A	XP_016878532.1:p.Ser602Thr
NM_005236.3:c.2593T>A MANE Select	NP_005227.1:p.Ser865Thr