Canonical Allele Identifier: CA278471976

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1635402
• ClinVar RCV Id: RCV002135195 ; RCV003408145 ; RCV003971066
• dbSNP Id: rs1002156756
• gnomAD v2: 16-14029421-C-T
• gnomAD v3: 16-13935564-C-T
• gnomAD v4: 16-13935564-C-T
• MyVariant Identifiers: chr16:g.14029421C>T (hg19) ; chr16:g.13935564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935564C>T , CM000678.2:g.13935564C>T	GRCh38
NC_000016.9:g.14029421C>T , CM000678.1:g.14029421C>T	GRCh37
NC_000016.8:g.13936922C>T	NCBI36
NG_011442.1:g.20408C>T , LRG_463:g.20408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1710C>T
ENST00000682617.1:c.1770C>T	ENSP00000507912.1:p.Phe590=
ENST00000682826.1:c.*946C>T	ENSP00000507274.1:n.*946C>T
ENST00000682909.1:n.3672C>T
ENST00000683277.1:n.3277C>T
ENST00000683407.1:n.1640C>T
ENST00000683962.1:c.*1326C>T	ENSP00000506854.1:n.*1326C>T
ENST00000311895.8:c.1632C>T MANE Select	ENSP00000310520.7:p.Phe544=
ENST00000311895.7:c.1632C>T	ENSP00000310520.7:p.Phe544=
ENST00000389138.7:n.909C>T
NM_005236.2:c.1632C>T , LRG_463t1:c.1632C>T	NP_005227.1:p.Phe544=
XM_011522424.1:c.1770C>T	XP_011520726.1:p.Phe590=
XM_011522425.1:c.1089C>T	XP_011520727.1:p.Phe363=
XM_011522426.1:c.843C>T	XP_011520728.1:p.Phe281=
XM_011522427.1:c.282C>T	XP_011520729.1:p.Phe94=
XR_932805.1:n.1791C>T
XM_011522424.3:c.1770C>T	XP_011520726.1:p.Phe590=
XM_017023043.2:c.843C>T	XP_016878532.1:p.Phe281=
NM_005236.3:c.1632C>T MANE Select	NP_005227.1:p.Phe544=