Canonical Allele Identifier: CA7910069
Community Standard Title: NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13920199A>G , CM000678.2:g.13920199A>G GRCh38
NC_000016.9:g.14014056A>G , CM000678.1:g.14014056A>G GRCh37
NC_000016.8:g.13921557A>G NCBI36
NG_011442.1:g.5043A>G , LRG_463:g.5043A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.34A>G MANE Select NP_005227.1:p.Met12Val
ENST00000311895.8:c.34A>G MANE Select ENSP00000310520.7:p.Met12Val
NM_005236.2:c.34A>G , LRG_463t1:c.34A>G NP_005227.1:p.Met12Val
ENST00000311895.7:c.34A>G ENSP00000310520.7:p.Met12Val
ENST00000575156.5:c.34A>G ENSP00000459933.1:p.Met12Val
ENST00000576348.1:n.9A>G
ENST00000682552.1:n.22A>G
ENST00000682617.1:c.34A>G ENSP00000507912.1:p.Met12Val
ENST00000682826.1:c.34A>G ENSP00000507274.1:p.Met12Val
ENST00000682909.1:n.43A>G
ENST00000683277.1:n.21A>G
ENST00000683407.1:n.42A>G
ENST00000683962.1:c.34A>G ENSP00000506854.1:p.Met12Val
XM_011522424.1:c.34A>G XP_011520726.1:p.Met12Val
XM_011522424.3:c.34A>G XP_011520726.1:p.Met12Val
XM_017023043.2:c.-904A>G XP_016878532.1:n.-904A>G
XR_932805.1:n.55A>G
XR_933098.1:n.82+6326T>C
XR_933099.1:n.82+6326T>C
XR_933100.1:n.82+6326T>C