Canonical Allele Identifier: CA394823859

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032555651
• gnomAD v4: 16-13948041-G-T
• MyVariant Identifiers: chr16:g.14041898G>T (hg19) ; chr16:g.13948041G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948041G>T , CM000678.2:g.13948041G>T	GRCh38
NC_000016.9:g.14041898G>T , CM000678.1:g.14041898G>T	GRCh37
NC_000016.8:g.13949399G>T	NCBI36
NG_011442.1:g.32885G>T , LRG_463:g.32885G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2583G>T	ENSP00000507912.1:p.Glu861Asp
ENST00000683962.1:c.*2139G>T	ENSP00000506854.1:n.*2139G>T
ENST00000311895.8:c.2445G>T MANE Select	ENSP00000310520.7:p.Glu815Asp
ENST00000311895.7:c.2445G>T	ENSP00000310520.7:p.Glu815Asp
ENST00000389138.7:n.1722G>T
NM_005236.2:c.2445G>T , LRG_463t1:c.2445G>T	NP_005227.1:p.Glu815Asp
XM_011522424.1:c.2583G>T	XP_011520726.1:p.Glu861Asp
XM_011522425.1:c.1902G>T	XP_011520727.1:p.Glu634Asp
XM_011522426.1:c.1656G>T	XP_011520728.1:p.Glu552Asp
XM_011522427.1:c.1095G>T	XP_011520729.1:p.Glu365Asp
XR_932805.1:n.2604G>T
XM_011522424.3:c.2583G>T	XP_011520726.1:p.Glu861Asp
XM_017023043.2:c.1656G>T	XP_016878532.1:p.Glu552Asp
NM_005236.3:c.2445G>T MANE Select	NP_005227.1:p.Glu815Asp