Canonical Allele Identifier: CA249006

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13932151T>C , CM000678.2:g.13932151T>C	GRCh38
NC_000016.9:g.14026008T>C , CM000678.1:g.14026008T>C	GRCh37
NC_000016.8:g.13933509T>C	NCBI36
NG_011442.1:g.16995T>C , LRG_463:g.16995T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.974-6T>C MANE Select	NP_005227.1:n.974-6T>C
ENST00000311895.8:c.974-6T>C MANE Select	ENSP00000310520.7:n.974-6T>C
NM_005236.2:c.974-6T>C , LRG_463t1:c.974-6T>C	NP_005227.1:n.974-6T>C
ENST00000311895.7:c.974-6T>C	ENSP00000310520.7:n.974-6T>C
ENST00000389138.7:n.126T>C
ENST00000574194.1:c.501-6T>C
ENST00000575156.5:c.974-6T>C	ENSP00000459933.1:n.974-6T>C
ENST00000682552.1:n.962-6T>C
ENST00000682568.1:n.1052-6T>C
ENST00000682617.1:c.1112-6T>C	ENSP00000507912.1:n.1112-6T>C
ENST00000682826.1:c.*288-6T>C	ENSP00000507274.1:n.*288-6T>C
ENST00000682909.1:n.3014-6T>C
ENST00000683277.1:n.2619-6T>C
ENST00000683407.1:n.982-6T>C
ENST00000683962.1:c.*668-6T>C	ENSP00000506854.1:n.*668-6T>C
XM_011522424.1:c.1112-6T>C	XP_011520726.1:n.1112-6T>C
XM_011522424.3:c.1112-6T>C	XP_011520726.1:n.1112-6T>C
XM_011522425.1:c.431-6T>C	XP_011520727.1:n.431-6T>C
XM_011522426.1:c.185-6T>C	XP_011520728.1:n.185-6T>C
XM_017023043.2:c.185-6T>C	XP_016878532.1:n.185-6T>C
XR_932805.1:n.1133-6T>C