Canonical Allele Identifier: CA394812570

Gene: ERCC4

Linked Data

• dbSNP Id: rs1220137706
• gnomAD v2: 16-14029531-A-T
• gnomAD v4: 16-13935674-A-T
• MyVariant Identifiers: chr16:g.14029531A>T (hg19) ; chr16:g.13935674A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935674A>T , CM000678.2:g.13935674A>T	GRCh38
NC_000016.9:g.14029531A>T , CM000678.1:g.14029531A>T	GRCh37
NC_000016.8:g.13937032A>T	NCBI36
NG_011442.1:g.20518A>T , LRG_463:g.20518A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1820A>T
ENST00000682617.1:c.1880A>T	ENSP00000507912.1:p.Tyr627Phe
ENST00000682826.1:c.*1056A>T	ENSP00000507274.1:n.*1056A>T
ENST00000682909.1:n.3782A>T
ENST00000683277.1:n.3387A>T
ENST00000683407.1:n.1750A>T
ENST00000683962.1:c.*1436A>T	ENSP00000506854.1:n.*1436A>T
ENST00000311895.8:c.1742A>T MANE Select	ENSP00000310520.7:p.Tyr581Phe
ENST00000311895.7:c.1742A>T	ENSP00000310520.7:p.Tyr581Phe
ENST00000389138.7:n.1019A>T
NM_005236.2:c.1742A>T , LRG_463t1:c.1742A>T	NP_005227.1:p.Tyr581Phe
XM_011522424.1:c.1880A>T	XP_011520726.1:p.Tyr627Phe
XM_011522425.1:c.1199A>T	XP_011520727.1:p.Tyr400Phe
XM_011522426.1:c.953A>T	XP_011520728.1:p.Tyr318Phe
XM_011522427.1:c.392A>T	XP_011520729.1:p.Tyr131Phe
XR_932805.1:n.1901A>T
XM_011522424.3:c.1880A>T	XP_011520726.1:p.Tyr627Phe
XM_017023043.2:c.953A>T	XP_016878532.1:p.Tyr318Phe
NM_005236.3:c.1742A>T MANE Select	NP_005227.1:p.Tyr581Phe