Canonical Allele Identifier: CA394821249
Gene: ERCC4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947658A>G , CM000678.2:g.13947658A>G GRCh38
NC_000016.9:g.14041515A>G , CM000678.1:g.14041515A>G GRCh37
NC_000016.8:g.13949016A>G NCBI36
NG_011442.1:g.32502A>G , LRG_463:g.32502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2200A>G ENSP00000507912.1:p.Met734Val
ENST00000683962.1:c.*1756A>G ENSP00000506854.1:n.*1756A>G
ENST00000311895.8:c.2062A>G MANE Select ENSP00000310520.7:p.Met688Val
ENST00000311895.7:c.2062A>G ENSP00000310520.7:p.Met688Val
ENST00000389138.7:n.1339A>G
ENST00000462862.1:c.375A>G ENSP00000461322.1:n.375A>G
NM_005236.2:c.2062A>G , LRG_463t1:c.2062A>G NP_005227.1:p.Met688Val
XM_011522424.1:c.2200A>G XP_011520726.1:p.Met734Val
XM_011522425.1:c.1519A>G XP_011520727.1:p.Met507Val
XM_011522426.1:c.1273A>G XP_011520728.1:p.Met425Val
XM_011522427.1:c.712A>G XP_011520729.1:p.Met238Val
XR_932805.1:n.2221A>G
XM_011522424.3:c.2200A>G XP_011520726.1:p.Met734Val
XM_017023043.2:c.1273A>G XP_016878532.1:p.Met425Val
NM_005236.3:c.2062A>G MANE Select NP_005227.1:p.Met688Val