Canonical Allele Identifier: CA7910055

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13920173C>T , CM000678.2:g.13920173C>T	GRCh38
NC_000016.9:g.14014030C>T , CM000678.1:g.14014030C>T	GRCh37
NC_000016.8:g.13921531C>T	NCBI36
NG_011442.1:g.5017C>T , LRG_463:g.5017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.8C>T	ENSP00000507912.1:p.Ser3Leu
ENST00000682826.1:c.8C>T	ENSP00000507274.1:p.Ser3Leu
ENST00000682909.1:n.17C>T
ENST00000683407.1:n.16C>T
ENST00000683962.1:c.8C>T	ENSP00000506854.1:p.Ser3Leu
ENST00000311895.8:c.8C>T MANE Select	ENSP00000310520.7:p.Ser3Leu
ENST00000311895.7:c.8C>T	ENSP00000310520.7:p.Ser3Leu
ENST00000575156.5:c.8C>T	ENSP00000459933.1:p.Ser3Leu
NM_005236.2:c.8C>T , LRG_463t1:c.8C>T	NP_005227.1:p.Ser3Leu
XM_011522424.1:c.8C>T	XP_011520726.1:p.Ser3Leu
XR_932805.1:n.29C>T
XR_933098.1:n.82+6352G>A
XR_933099.1:n.82+6352G>A
XR_933100.1:n.82+6352G>A
XM_011522424.3:c.8C>T	XP_011520726.1:p.Ser3Leu
NM_005236.3:c.8C>T MANE Select	NP_005227.1:p.Ser3Leu