Canonical Allele Identifier: CA2631833462

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944709-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944709G>C , CM000678.2:g.13944709G>C	GRCh38
NC_000016.9:g.14038566G>C , CM000678.1:g.14038566G>C	GRCh37
NC_000016.8:g.13946067G>C	NCBI36
NG_011442.1:g.29553G>C , LRG_463:g.29553G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2043-14G>C	ENSP00000507912.1:n.2043-14G>C
ENST00000683962.1:c.*1599-14G>C	ENSP00000506854.1:n.*1599-14G>C
ENST00000311895.8:c.1905-14G>C MANE Select	ENSP00000310520.7:n.1905-14G>C
ENST00000311895.7:c.1905-14G>C	ENSP00000310520.7:n.1905-14G>C
ENST00000389138.7:n.1182-14G>C
ENST00000462862.1:c.218-14G>C	ENSP00000461322.1:n.218-14G>C
NM_005236.2:c.1905-14G>C , LRG_463t1:c.1905-14G>C	NP_005227.1:n.1905-14G>C
XM_011522424.1:c.2043-14G>C	XP_011520726.1:n.2043-14G>C
XM_011522425.1:c.1362-14G>C	XP_011520727.1:n.1362-14G>C
XM_011522426.1:c.1116-14G>C	XP_011520728.1:n.1116-14G>C
XM_011522427.1:c.555-14G>C	XP_011520729.1:n.555-14G>C
XR_932805.1:n.2064-14G>C
XM_011522424.3:c.2043-14G>C	XP_011520726.1:n.2043-14G>C
XM_017023043.2:c.1116-14G>C	XP_016878532.1:n.1116-14G>C
NM_005236.3:c.1905-14G>C MANE Select	NP_005227.1:n.1905-14G>C