Canonical Allele Identifier: CA394816564

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2944222
• ClinVar RCV Id: RCV003805972
• MyVariant Identifiers: chr16:g.14014212A>T (hg19) ; chr16:g.13920355A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13920355A>T , CM000678.2:g.13920355A>T	GRCh38
NC_000016.9:g.14014212A>T , CM000678.1:g.14014212A>T	GRCh37
NC_000016.8:g.13921713A>T	NCBI36
NG_011442.1:g.5199A>T , LRG_463:g.5199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682552.1:n.178A>T
ENST00000682617.1:c.190A>T	ENSP00000507912.1:p.Thr64Ser
ENST00000682826.1:c.190A>T	ENSP00000507274.1:p.Thr64Ser
ENST00000682909.1:n.199A>T
ENST00000683277.1:n.177A>T
ENST00000683407.1:n.198A>T
ENST00000683962.1:c.190A>T	ENSP00000506854.1:p.Thr64Ser
ENST00000311895.8:c.190A>T MANE Select	ENSP00000310520.7:p.Thr64Ser
ENST00000311895.7:c.190A>T	ENSP00000310520.7:p.Thr64Ser
ENST00000575156.5:c.190A>T	ENSP00000459933.1:p.Thr64Ser
ENST00000576348.1:n.165A>T
NM_005236.2:c.190A>T , LRG_463t1:c.190A>T	NP_005227.1:p.Thr64Ser
XM_011522424.1:c.190A>T	XP_011520726.1:p.Thr64Ser
XR_932805.1:n.211A>T
XR_933098.1:n.82+6170T>A
XR_933099.1:n.82+6170T>A
XR_933100.1:n.82+6170T>A
XM_011522424.3:c.190A>T	XP_011520726.1:p.Thr64Ser
XM_017023043.2:c.-748A>T	XP_016878532.1:n.-748A>T
NM_005236.3:c.190A>T MANE Select	NP_005227.1:p.Thr64Ser