Canonical Allele Identifier: CA394818085

Gene: ERCC4

Linked Data

• dbSNP Id: rs1428509012
• gnomAD v2: 16-14038665-G-T
• gnomAD v4: 16-13944808-G-T
• MyVariant Identifiers: chr16:g.14038665G>T (hg19) ; chr16:g.13944808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944808G>T , CM000678.2:g.13944808G>T	GRCh38
NC_000016.9:g.14038665G>T , CM000678.1:g.14038665G>T	GRCh37
NC_000016.8:g.13946166G>T	NCBI36
NG_011442.1:g.29652G>T , LRG_463:g.29652G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2128G>T	ENSP00000507912.1:p.Asp710Tyr
ENST00000683962.1:c.*1684G>T	ENSP00000506854.1:n.*1684G>T
ENST00000311895.8:c.1990G>T MANE Select	ENSP00000310520.7:p.Asp664Tyr
ENST00000311895.7:c.1990G>T	ENSP00000310520.7:p.Asp664Tyr
ENST00000389138.7:n.1267G>T
ENST00000462862.1:c.303G>T	ENSP00000461322.1:n.303G>T
NM_005236.2:c.1990G>T , LRG_463t1:c.1990G>T	NP_005227.1:p.Asp664Tyr
XM_011522424.1:c.2128G>T	XP_011520726.1:p.Asp710Tyr
XM_011522425.1:c.1447G>T	XP_011520727.1:p.Asp483Tyr
XM_011522426.1:c.1201G>T	XP_011520728.1:p.Asp401Tyr
XM_011522427.1:c.640G>T	XP_011520729.1:p.Asp214Tyr
XR_932805.1:n.2149G>T
XM_011522424.3:c.2128G>T	XP_011520726.1:p.Asp710Tyr
XM_017023043.2:c.1201G>T	XP_016878532.1:p.Asp401Tyr
NM_005236.3:c.1990G>T MANE Select	NP_005227.1:p.Asp664Tyr