Canonical Allele Identifier: CA394804507

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14024661A>T (hg19) ; chr16:g.13930804A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930804A>T , CM000678.2:g.13930804A>T	GRCh38
NC_000016.9:g.14024661A>T , CM000678.1:g.14024661A>T	GRCh37
NC_000016.8:g.13932162A>T	NCBI36
NG_011442.1:g.15648A>T , LRG_463:g.15648A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.875A>T
ENST00000682568.1:n.965A>T
ENST00000682617.1:c.1025A>T	ENSP00000507912.1:p.Gln342Leu
ENST00000682826.1:c.*201A>T	ENSP00000507274.1:n.*201A>T
ENST00000682909.1:n.2927A>T
ENST00000683277.1:n.2532A>T
ENST00000683407.1:n.895A>T
ENST00000683962.1:c.*581A>T	ENSP00000506854.1:n.*581A>T
ENST00000311895.8:c.887A>T MANE Select	ENSP00000310520.7:p.Gln296Leu
ENST00000311895.7:c.887A>T	ENSP00000310520.7:p.Gln296Leu
ENST00000574194.1:c.414A>T
ENST00000574781.1:n.564A>T
ENST00000575156.5:c.887A>T	ENSP00000459933.1:p.Gln296Leu
NM_005236.2:c.887A>T , LRG_463t1:c.887A>T	NP_005227.1:p.Gln296Leu
XM_011522424.1:c.1025A>T	XP_011520726.1:p.Gln342Leu
XM_011522425.1:c.344A>T	XP_011520727.1:p.Gln115Leu
XM_011522426.1:c.98A>T	XP_011520728.1:p.Gln33Leu
XR_932805.1:n.1046A>T
XM_011522424.3:c.1025A>T	XP_011520726.1:p.Gln342Leu
XM_017023043.2:c.98A>T	XP_016878532.1:p.Gln33Leu
NM_005236.3:c.887A>T MANE Select	NP_005227.1:p.Gln296Leu