Canonical Allele Identifier: CA2209082627
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1691323074

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947597T>G , CM000678.2:g.13947597T>G GRCh38
NC_000016.9:g.14041454T>G , CM000678.1:g.14041454T>G GRCh37
NC_000016.8:g.13948955T>G NCBI36
NG_011442.1:g.32441T>G , LRG_463:g.32441T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2156-17T>G ENSP00000507912.1:n.2156-17T>G
ENST00000683962.1:c.*1712-17T>G ENSP00000506854.1:n.*1712-17T>G
ENST00000311895.8:c.2018-17T>G MANE Select ENSP00000310520.7:n.2018-17T>G
ENST00000311895.7:c.2018-17T>G ENSP00000310520.7:n.2018-17T>G
ENST00000389138.7:n.1295-17T>G
ENST00000462862.1:c.331-17T>G ENSP00000461322.1:n.331-17T>G
NM_005236.2:c.2018-17T>G , LRG_463t1:c.2018-17T>G NP_005227.1:n.2018-17T>G
XM_011522424.1:c.2156-17T>G XP_011520726.1:n.2156-17T>G
XM_011522425.1:c.1475-17T>G XP_011520727.1:n.1475-17T>G
XM_011522426.1:c.1229-17T>G XP_011520728.1:n.1229-17T>G
XM_011522427.1:c.668-17T>G XP_011520729.1:n.668-17T>G
XR_932805.1:n.2177-17T>G
XM_011522424.3:c.2156-17T>G XP_011520726.1:n.2156-17T>G
XM_017023043.2:c.1229-17T>G XP_016878532.1:n.1229-17T>G
NM_005236.3:c.2018-17T>G MANE Select NP_005227.1:n.2018-17T>G