Canonical Allele Identifier: CA394824421
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948141C>T , CM000678.2:g.13948141C>T GRCh38
NC_000016.9:g.14041998C>T , CM000678.1:g.14041998C>T GRCh37
NC_000016.8:g.13949499C>T NCBI36
NG_011442.1:g.32985C>T , LRG_463:g.32985C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2683C>T ENSP00000507912.1:p.Gln895Ter
ENST00000683962.1:c.*2239C>T ENSP00000506854.1:n.*2239C>T
ENST00000311895.8:c.2545C>T MANE Select ENSP00000310520.7:p.Gln849Ter
ENST00000311895.7:c.2545C>T ENSP00000310520.7:p.Gln849Ter
ENST00000389138.7:n.1822C>T
NM_005236.2:c.2545C>T , LRG_463t1:c.2545C>T NP_005227.1:p.Gln849Ter
XM_011522424.1:c.2683C>T XP_011520726.1:p.Gln895Ter
XM_011522425.1:c.2002C>T XP_011520727.1:p.Gln668Ter
XM_011522426.1:c.1756C>T XP_011520728.1:p.Gln586Ter
XM_011522427.1:c.1195C>T XP_011520729.1:p.Gln399Ter
XR_932805.1:n.2704C>T
XM_011522424.3:c.2683C>T XP_011520726.1:p.Gln895Ter
XM_017023043.2:c.1756C>T XP_016878532.1:p.Gln586Ter
NM_005236.3:c.2545C>T MANE Select NP_005227.1:p.Gln849Ter