Canonical Allele Identifier: CA2209081393

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2033629
• ClinVar RCV Id: RCV002872519
• dbSNP Id: rs780224931
• gnomAD v4: 16-13944703-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944703G>C , CM000678.2:g.13944703G>C	GRCh38
NC_000016.9:g.14038560G>C , CM000678.1:g.14038560G>C	GRCh37
NC_000016.8:g.13946061G>C	NCBI36
NG_011442.1:g.29547G>C , LRG_463:g.29547G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2043-20G>C	ENSP00000507912.1:n.2043-20G>C
ENST00000683962.1:c.*1599-20G>C	ENSP00000506854.1:n.*1599-20G>C
ENST00000311895.8:c.1905-20G>C MANE Select	ENSP00000310520.7:n.1905-20G>C
ENST00000311895.7:c.1905-20G>C	ENSP00000310520.7:n.1905-20G>C
ENST00000389138.7:n.1182-20G>C
ENST00000462862.1:c.218-20G>C	ENSP00000461322.1:n.218-20G>C
NM_005236.2:c.1905-20G>C , LRG_463t1:c.1905-20G>C	NP_005227.1:n.1905-20G>C
XM_011522424.1:c.2043-20G>C	XP_011520726.1:n.2043-20G>C
XM_011522425.1:c.1362-20G>C	XP_011520727.1:n.1362-20G>C
XM_011522426.1:c.1116-20G>C	XP_011520728.1:n.1116-20G>C
XM_011522427.1:c.555-20G>C	XP_011520729.1:n.555-20G>C
XR_932805.1:n.2064-20G>C
XM_011522424.3:c.2043-20G>C	XP_011520726.1:n.2043-20G>C
XM_017023043.2:c.1116-20G>C	XP_016878532.1:n.1116-20G>C
NM_005236.3:c.1905-20G>C MANE Select	NP_005227.1:n.1905-20G>C