Canonical Allele Identifier: CA394816150
Community Standard Title: NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13920265G>A , CM000678.2:g.13920265G>A GRCh38
NC_000016.9:g.14014122G>A , CM000678.1:g.14014122G>A GRCh37
NC_000016.8:g.13921623G>A NCBI36
NG_011442.1:g.5109G>A , LRG_463:g.5109G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.100G>A MANE Select NP_005227.1:p.Val34Met
ENST00000311895.8:c.100G>A MANE Select ENSP00000310520.7:p.Val34Met
NM_005236.2:c.100G>A , LRG_463t1:c.100G>A NP_005227.1:p.Val34Met
ENST00000311895.7:c.100G>A ENSP00000310520.7:p.Val34Met
ENST00000575156.5:c.100G>A ENSP00000459933.1:p.Val34Met
ENST00000576348.1:n.75G>A
ENST00000682552.1:n.88G>A
ENST00000682617.1:c.100G>A ENSP00000507912.1:p.Val34Met
ENST00000682826.1:c.100G>A ENSP00000507274.1:p.Val34Met
ENST00000682909.1:n.109G>A
ENST00000683277.1:n.87G>A
ENST00000683407.1:n.108G>A
ENST00000683962.1:c.100G>A ENSP00000506854.1:p.Val34Met
XM_011522424.1:c.100G>A XP_011520726.1:p.Val34Met
XM_011522424.3:c.100G>A XP_011520726.1:p.Val34Met
XM_017023043.2:c.-838G>A XP_016878532.1:n.-838G>A
XR_932805.1:n.121G>A
XR_933098.1:n.82+6260C>T
XR_933099.1:n.82+6260C>T
XR_933100.1:n.82+6260C>T