Canonical Allele Identifier: CA394822946
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1347594016

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947902T>G , CM000678.2:g.13947902T>G GRCh38
NC_000016.9:g.14041759T>G , CM000678.1:g.14041759T>G GRCh37
NC_000016.8:g.13949260T>G NCBI36
NG_011442.1:g.32746T>G , LRG_463:g.32746T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2444T>G ENSP00000507912.1:p.Leu815Arg
ENST00000683962.1:c.*2000T>G ENSP00000506854.1:n.*2000T>G
ENST00000311895.8:c.2306T>G MANE Select ENSP00000310520.7:p.Leu769Arg
ENST00000311895.7:c.2306T>G ENSP00000310520.7:p.Leu769Arg
ENST00000389138.7:n.1583T>G
ENST00000462862.1:c.619T>G ENSP00000461322.1:n.619T>G
NM_005236.2:c.2306T>G , LRG_463t1:c.2306T>G NP_005227.1:p.Leu769Arg
XM_011522424.1:c.2444T>G XP_011520726.1:p.Leu815Arg
XM_011522425.1:c.1763T>G XP_011520727.1:p.Leu588Arg
XM_011522426.1:c.1517T>G XP_011520728.1:p.Leu506Arg
XM_011522427.1:c.956T>G XP_011520729.1:p.Leu319Arg
XR_932805.1:n.2465T>G
XM_011522424.3:c.2444T>G XP_011520726.1:p.Leu815Arg
XM_017023043.2:c.1517T>G XP_016878532.1:p.Leu506Arg
NM_005236.3:c.2306T>G MANE Select NP_005227.1:p.Leu769Arg