Canonical Allele Identifier: CA394803715
Community Standard Title: NM_005236.3(ERCC4):c.793-2A>G
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13930708A>G , CM000678.2:g.13930708A>G GRCh38
NC_000016.9:g.14024565A>G , CM000678.1:g.14024565A>G GRCh37
NC_000016.8:g.13932066A>G NCBI36
NG_011442.1:g.15552A>G , LRG_463:g.15552A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.793-2A>G MANE Select NP_005227.1:n.793-2A>G
ENST00000311895.8:c.793-2A>G MANE Select ENSP00000310520.7:n.793-2A>G
NM_005236.2:c.793-2A>G , LRG_463t1:c.793-2A>G NP_005227.1:n.793-2A>G
ENST00000311895.7:c.793-2A>G ENSP00000310520.7:n.793-2A>G
ENST00000574194.1:c.320-2A>G
ENST00000574781.1:n.470-2A>G
ENST00000575156.5:c.793-2A>G ENSP00000459933.1:n.793-2A>G
ENST00000682552.1:n.781-2A>G
ENST00000682568.1:n.871-2A>G
ENST00000682617.1:c.931-2A>G ENSP00000507912.1:n.931-2A>G
ENST00000682826.1:c.*107-2A>G ENSP00000507274.1:n.*107-2A>G
ENST00000682909.1:n.2833-2A>G
ENST00000683277.1:n.2438-2A>G
ENST00000683407.1:n.801-2A>G
ENST00000683962.1:c.*487-2A>G ENSP00000506854.1:n.*487-2A>G
XM_011522424.1:c.931-2A>G XP_011520726.1:n.931-2A>G
XM_011522424.3:c.931-2A>G XP_011520726.1:n.931-2A>G
XM_011522425.1:c.250-2A>G XP_011520727.1:n.250-2A>G
XM_011522426.1:c.4-2A>G XP_011520728.1:n.4-2A>G
XM_017023043.2:c.4-2A>G XP_016878532.1:n.4-2A>G
XR_932805.1:n.952-2A>G