Canonical Allele Identifier: CA7910142
Community Standard Title: NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13922098T>G , CM000678.2:g.13922098T>G GRCh38
NC_000016.9:g.14015955T>G , CM000678.1:g.14015955T>G GRCh37
NC_000016.8:g.13923456T>G NCBI36
NG_011442.1:g.6942T>G , LRG_463:g.6942T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.275T>G MANE Select NP_005227.1:p.Ile92Ser
ENST00000311895.8:c.275T>G MANE Select ENSP00000310520.7:p.Ile92Ser
NM_005236.2:c.275T>G , LRG_463t1:c.275T>G NP_005227.1:p.Ile92Ser
ENST00000311895.7:c.275T>G ENSP00000310520.7:p.Ile92Ser
ENST00000575156.5:c.275T>G ENSP00000459933.1:p.Ile92Ser
ENST00000576348.1:n.250T>G
ENST00000682552.1:n.263T>G
ENST00000682568.1:n.205T>G
ENST00000682617.1:c.275T>G ENSP00000507912.1:p.Ile92Ser
ENST00000682826.1:c.275T>G ENSP00000507274.1:p.Ile92Ser
ENST00000682909.1:n.284T>G
ENST00000683277.1:n.1920T>G
ENST00000683407.1:n.283T>G
ENST00000683962.1:c.275T>G ENSP00000506854.1:p.Ile92Ser
XM_011522424.1:c.275T>G XP_011520726.1:p.Ile92Ser
XM_011522424.3:c.275T>G XP_011520726.1:p.Ile92Ser
XM_017023043.2:c.-663T>G XP_016878532.1:n.-663T>G
XR_932805.1:n.296T>G
XR_933098.1:n.82+4427A>C
XR_933099.1:n.82+4427A>C
XR_933100.1:n.82+4427A>C