Canonical Allele Identifier: CA394811495

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029333G>T (hg19) ; chr16:g.13935476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935476G>T , CM000678.2:g.13935476G>T	GRCh38
NC_000016.9:g.14029333G>T , CM000678.1:g.14029333G>T	GRCh37
NC_000016.8:g.13936834G>T	NCBI36
NG_011442.1:g.20320G>T , LRG_463:g.20320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1622G>T
ENST00000682617.1:c.1682G>T	ENSP00000507912.1:p.Arg561Leu
ENST00000682826.1:c.*858G>T	ENSP00000507274.1:n.*858G>T
ENST00000682909.1:n.3584G>T
ENST00000683277.1:n.3189G>T
ENST00000683407.1:n.1552G>T
ENST00000683962.1:c.*1238G>T	ENSP00000506854.1:n.*1238G>T
ENST00000311895.8:c.1544G>T MANE Select	ENSP00000310520.7:p.Arg515Leu
ENST00000311895.7:c.1544G>T	ENSP00000310520.7:p.Arg515Leu
ENST00000389138.7:n.821G>T
NM_005236.2:c.1544G>T , LRG_463t1:c.1544G>T	NP_005227.1:p.Arg515Leu
XM_011522424.1:c.1682G>T	XP_011520726.1:p.Arg561Leu
XM_011522425.1:c.1001G>T	XP_011520727.1:p.Arg334Leu
XM_011522426.1:c.755G>T	XP_011520728.1:p.Arg252Leu
XM_011522427.1:c.194G>T	XP_011520729.1:p.Arg65Leu
XR_932805.1:n.1703G>T
XM_011522424.3:c.1682G>T	XP_011520726.1:p.Arg561Leu
XM_017023043.2:c.755G>T	XP_016878532.1:p.Arg252Leu
NM_005236.3:c.1544G>T MANE Select	NP_005227.1:p.Arg515Leu