Canonical Allele Identifier: CA394822185
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947743A>T , CM000678.2:g.13947743A>T GRCh38
NC_000016.9:g.14041600A>T , CM000678.1:g.14041600A>T GRCh37
NC_000016.8:g.13949101A>T NCBI36
NG_011442.1:g.32587A>T , LRG_463:g.32587A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2285A>T ENSP00000507912.1:p.Tyr762Phe
ENST00000683962.1:c.*1841A>T ENSP00000506854.1:n.*1841A>T
ENST00000311895.8:c.2147A>T MANE Select ENSP00000310520.7:p.Tyr716Phe
ENST00000311895.7:c.2147A>T ENSP00000310520.7:p.Tyr716Phe
ENST00000389138.7:n.1424A>T
ENST00000462862.1:c.460A>T ENSP00000461322.1:n.460A>T
NM_005236.2:c.2147A>T , LRG_463t1:c.2147A>T NP_005227.1:p.Tyr716Phe
XM_011522424.1:c.2285A>T XP_011520726.1:p.Tyr762Phe
XM_011522425.1:c.1604A>T XP_011520727.1:p.Tyr535Phe
XM_011522426.1:c.1358A>T XP_011520728.1:p.Tyr453Phe
XM_011522427.1:c.797A>T XP_011520729.1:p.Tyr266Phe
XR_932805.1:n.2306A>T
XM_011522424.3:c.2285A>T XP_011520726.1:p.Tyr762Phe
XM_017023043.2:c.1358A>T XP_016878532.1:p.Tyr453Phe
NM_005236.3:c.2147A>T MANE Select NP_005227.1:p.Tyr716Phe