Canonical Allele Identifier: CA394824385
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948132C>G , CM000678.2:g.13948132C>G GRCh38
NC_000016.9:g.14041989C>G , CM000678.1:g.14041989C>G GRCh37
NC_000016.8:g.13949490C>G NCBI36
NG_011442.1:g.32976C>G , LRG_463:g.32976C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2674C>G ENSP00000507912.1:p.Pro892Ala
ENST00000683962.1:c.*2230C>G ENSP00000506854.1:n.*2230C>G
ENST00000311895.8:c.2536C>G MANE Select ENSP00000310520.7:p.Pro846Ala
ENST00000311895.7:c.2536C>G ENSP00000310520.7:p.Pro846Ala
ENST00000389138.7:n.1813C>G
NM_005236.2:c.2536C>G , LRG_463t1:c.2536C>G NP_005227.1:p.Pro846Ala
XM_011522424.1:c.2674C>G XP_011520726.1:p.Pro892Ala
XM_011522425.1:c.1993C>G XP_011520727.1:p.Pro665Ala
XM_011522426.1:c.1747C>G XP_011520728.1:p.Pro583Ala
XM_011522427.1:c.1186C>G XP_011520729.1:p.Pro396Ala
XR_932805.1:n.2695C>G
XM_011522424.3:c.2674C>G XP_011520726.1:p.Pro892Ala
XM_017023043.2:c.1747C>G XP_016878532.1:p.Pro583Ala
NM_005236.3:c.2536C>G MANE Select NP_005227.1:p.Pro846Ala