Canonical Allele Identifier: CA493689617
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947672A>T , CM000678.2:g.13947672A>T GRCh38
NC_000016.9:g.14041529A>T , CM000678.1:g.14041529A>T GRCh37
NC_000016.8:g.13949030A>T NCBI36
NG_011442.1:g.32516A>T , LRG_463:g.32516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2214A>T ENSP00000507912.1:p.Arg738=
ENST00000683962.1:c.*1770A>T ENSP00000506854.1:n.*1770A>T
ENST00000311895.8:c.2076A>T MANE Select ENSP00000310520.7:p.Arg692=
ENST00000311895.7:c.2076A>T ENSP00000310520.7:p.Arg692=
ENST00000389138.7:n.1353A>T
ENST00000462862.1:c.389A>T ENSP00000461322.1:n.389A>T
NM_005236.2:c.2076A>T , LRG_463t1:c.2076A>T NP_005227.1:p.Arg692=
XM_011522424.1:c.2214A>T XP_011520726.1:p.Arg738=
XM_011522425.1:c.1533A>T XP_011520727.1:p.Arg511=
XM_011522426.1:c.1287A>T XP_011520728.1:p.Arg429=
XM_011522427.1:c.726A>T XP_011520729.1:p.Arg242=
XR_932805.1:n.2235A>T
XM_011522424.3:c.2214A>T XP_011520726.1:p.Arg738=
XM_017023043.2:c.1287A>T XP_016878532.1:p.Arg429=
NM_005236.3:c.2076A>T MANE Select NP_005227.1:p.Arg692=