Canonical Allele Identifier: CA2631831481
Gene: ERCC4 HGNC NCBI

Linked Data

gnomAD v4: 16-13948475-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948475G>A , CM000678.2:g.13948475G>A GRCh38
NC_000016.9:g.14042332G>A , CM000678.1:g.14042332G>A GRCh37
NC_000016.8:g.13949833G>A NCBI36
NG_011442.1:g.33319G>A , LRG_463:g.33319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.*128G>A ENSP00000507912.1:n.*128G>A
ENST00000683962.1:c.*2573G>A ENSP00000506854.1:n.*2573G>A
ENST00000311895.8:c.*128G>A MANE Select ENSP00000310520.7:n.*128G>A
ENST00000311895.7:c.*128G>A ENSP00000310520.7:n.*128G>A
NM_005236.2:c.*128G>A , LRG_463t1:c.*128G>A NP_005227.1:n.*128G>A
XM_011522424.1:c.*128G>A XP_011520726.1:n.*128G>A
XM_011522425.1:c.*128G>A XP_011520727.1:n.*128G>A
XM_011522426.1:c.*128G>A XP_011520728.1:n.*128G>A
XM_011522427.1:c.*128G>A XP_011520729.1:n.*128G>A
XR_932805.1:n.3038G>A
XM_011522424.3:c.*128G>A XP_011520726.1:n.*128G>A
XM_017023043.2:c.*128G>A XP_016878532.1:n.*128G>A
NM_005236.3:c.*128G>A MANE Select NP_005227.1:n.*128G>A
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