Canonical Allele Identifier: CA7910316
Community Standard Title: NM_005236.3(ERCC4):c.973+11A>T
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13930901A>T , CM000678.2:g.13930901A>T GRCh38
NC_000016.9:g.14024758A>T , CM000678.1:g.14024758A>T GRCh37
NC_000016.8:g.13932259A>T NCBI36
NG_011442.1:g.15745A>T , LRG_463:g.15745A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.973+11A>T MANE Select NP_005227.1:n.973+11A>T
ENST00000311895.8:c.973+11A>T MANE Select ENSP00000310520.7:n.973+11A>T
NM_005236.2:c.973+11A>T , LRG_463t1:c.973+11A>T NP_005227.1:n.973+11A>T
ENST00000311895.7:c.973+11A>T ENSP00000310520.7:n.973+11A>T
ENST00000574194.1:c.500+11A>T
ENST00000575156.5:c.973+11A>T ENSP00000459933.1:n.973+11A>T
ENST00000682552.1:n.961+11A>T
ENST00000682568.1:n.1051+11A>T
ENST00000682617.1:c.1111+11A>T ENSP00000507912.1:n.1111+11A>T
ENST00000682826.1:c.*287+11A>T ENSP00000507274.1:n.*287+11A>T
ENST00000682909.1:n.3013+11A>T
ENST00000683277.1:n.2618+11A>T
ENST00000683407.1:n.981+11A>T
ENST00000683962.1:c.*667+11A>T ENSP00000506854.1:n.*667+11A>T
XM_011522424.1:c.1111+11A>T XP_011520726.1:n.1111+11A>T
XM_011522424.3:c.1111+11A>T XP_011520726.1:n.1111+11A>T
XM_011522425.1:c.430+11A>T XP_011520727.1:n.430+11A>T
XM_011522426.1:c.184+11A>T XP_011520728.1:n.184+11A>T
XM_017023043.2:c.184+11A>T XP_016878532.1:n.184+11A>T
XR_932805.1:n.1132+11A>T