Canonical Allele Identifier: CA394817563

Gene: ERCC4

Linked Data

• dbSNP Id: rs1356223407
• gnomAD v2: 16-14038614-G-T
• gnomAD v4: 16-13944757-G-T
• MyVariant Identifiers: chr16:g.14038614G>T (hg19) ; chr16:g.13944757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944757G>T , CM000678.2:g.13944757G>T	GRCh38
NC_000016.9:g.14038614G>T , CM000678.1:g.14038614G>T	GRCh37
NC_000016.8:g.13946115G>T	NCBI36
NG_011442.1:g.29601G>T , LRG_463:g.29601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2077G>T	ENSP00000507912.1:p.Glu693Ter
ENST00000683962.1:c.*1633G>T	ENSP00000506854.1:n.*1633G>T
ENST00000311895.8:c.1939G>T MANE Select	ENSP00000310520.7:p.Glu647Ter
ENST00000311895.7:c.1939G>T	ENSP00000310520.7:p.Glu647Ter
ENST00000389138.7:n.1216G>T
ENST00000462862.1:c.252G>T	ENSP00000461322.1:n.252G>T
NM_005236.2:c.1939G>T , LRG_463t1:c.1939G>T	NP_005227.1:p.Glu647Ter
XM_011522424.1:c.2077G>T	XP_011520726.1:p.Glu693Ter
XM_011522425.1:c.1396G>T	XP_011520727.1:p.Glu466Ter
XM_011522426.1:c.1150G>T	XP_011520728.1:p.Glu384Ter
XM_011522427.1:c.589G>T	XP_011520729.1:p.Glu197Ter
XR_932805.1:n.2098G>T
XM_011522424.3:c.2077G>T	XP_011520726.1:p.Glu693Ter
XM_017023043.2:c.1150G>T	XP_016878532.1:p.Glu384Ter
NM_005236.3:c.1939G>T MANE Select	NP_005227.1:p.Glu647Ter