Canonical Allele Identifier: CA278472210

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1692877
• ClinVar RCV Id: RCV002258696
• dbSNP Id: rs374303503
• gnomAD v4: 16-13935720-G-T
• MyVariant Identifiers: chr16:g.14029577G>T (hg19) ; chr16:g.13935720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935720G>T , CM000678.2:g.13935720G>T	GRCh38
NC_000016.9:g.14029577G>T , CM000678.1:g.14029577G>T	GRCh37
NC_000016.8:g.13937078G>T	NCBI36
NG_011442.1:g.20564G>T , LRG_463:g.20564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1866G>T
ENST00000682617.1:c.1926G>T	ENSP00000507912.1:p.Ala642=
ENST00000682826.1:c.*1102G>T	ENSP00000507274.1:n.*1102G>T
ENST00000682909.1:n.3828G>T
ENST00000683277.1:n.3433G>T
ENST00000683407.1:n.1796G>T
ENST00000683962.1:c.*1482G>T	ENSP00000506854.1:n.*1482G>T
ENST00000311895.8:c.1788G>T MANE Select	ENSP00000310520.7:p.Ala596=
ENST00000311895.7:c.1788G>T	ENSP00000310520.7:p.Ala596=
ENST00000389138.7:n.1065G>T
NM_005236.2:c.1788G>T , LRG_463t1:c.1788G>T	NP_005227.1:p.Ala596=
XM_011522424.1:c.1926G>T	XP_011520726.1:p.Ala642=
XM_011522425.1:c.1245G>T	XP_011520727.1:p.Ala415=
XM_011522426.1:c.999G>T	XP_011520728.1:p.Ala333=
XM_011522427.1:c.438G>T	XP_011520729.1:p.Ala146=
XR_932805.1:n.1947G>T
XM_011522424.3:c.1926G>T	XP_011520726.1:p.Ala642=
XM_017023043.2:c.999G>T	XP_016878532.1:p.Ala333=
NM_005236.3:c.1788G>T MANE Select	NP_005227.1:p.Ala596=