Canonical Allele Identifier: CA2209081398

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032482047
• gnomAD v3: 16-13944718-C-T
• gnomAD v4: 16-13944718-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944718C>T , CM000678.2:g.13944718C>T	GRCh38
NC_000016.9:g.14038575C>T , CM000678.1:g.14038575C>T	GRCh37
NC_000016.8:g.13946076C>T	NCBI36
NG_011442.1:g.29562C>T , LRG_463:g.29562C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2043-5C>T	ENSP00000507912.1:n.2043-5C>T
ENST00000683962.1:c.*1599-5C>T	ENSP00000506854.1:n.*1599-5C>T
ENST00000311895.8:c.1905-5C>T MANE Select	ENSP00000310520.7:n.1905-5C>T
ENST00000311895.7:c.1905-5C>T	ENSP00000310520.7:n.1905-5C>T
ENST00000389138.7:n.1182-5C>T
ENST00000462862.1:c.218-5C>T	ENSP00000461322.1:n.218-5C>T
NM_005236.2:c.1905-5C>T , LRG_463t1:c.1905-5C>T	NP_005227.1:n.1905-5C>T
XM_011522424.1:c.2043-5C>T	XP_011520726.1:n.2043-5C>T
XM_011522425.1:c.1362-5C>T	XP_011520727.1:n.1362-5C>T
XM_011522426.1:c.1116-5C>T	XP_011520728.1:n.1116-5C>T
XM_011522427.1:c.555-5C>T	XP_011520729.1:n.555-5C>T
XR_932805.1:n.2064-5C>T
XM_011522424.3:c.2043-5C>T	XP_011520726.1:n.2043-5C>T
XM_017023043.2:c.1116-5C>T	XP_016878532.1:n.1116-5C>T
NM_005236.3:c.1905-5C>T MANE Select	NP_005227.1:n.1905-5C>T