Canonical Allele Identifier: CA394811409

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029314G>C (hg19) ; chr16:g.13935457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935457G>C , CM000678.2:g.13935457G>C	GRCh38
NC_000016.9:g.14029314G>C , CM000678.1:g.14029314G>C	GRCh37
NC_000016.8:g.13936815G>C	NCBI36
NG_011442.1:g.20301G>C , LRG_463:g.20301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1603G>C
ENST00000682617.1:c.1663G>C	ENSP00000507912.1:p.Asp555His
ENST00000682826.1:c.*839G>C	ENSP00000507274.1:n.*839G>C
ENST00000682909.1:n.3565G>C
ENST00000683277.1:n.3170G>C
ENST00000683407.1:n.1533G>C
ENST00000683962.1:c.*1219G>C	ENSP00000506854.1:n.*1219G>C
ENST00000311895.8:c.1525G>C MANE Select	ENSP00000310520.7:p.Asp509His
ENST00000311895.7:c.1525G>C	ENSP00000310520.7:p.Asp509His
ENST00000389138.7:n.802G>C
NM_005236.2:c.1525G>C , LRG_463t1:c.1525G>C	NP_005227.1:p.Asp509His
XM_011522424.1:c.1663G>C	XP_011520726.1:p.Asp555His
XM_011522425.1:c.982G>C	XP_011520727.1:p.Asp328His
XM_011522426.1:c.736G>C	XP_011520728.1:p.Asp246His
XM_011522427.1:c.175G>C	XP_011520729.1:p.Asp59His
XR_932805.1:n.1684G>C
XM_011522424.3:c.1663G>C	XP_011520726.1:p.Asp555His
XM_017023043.2:c.736G>C	XP_016878532.1:p.Asp246His
NM_005236.3:c.1525G>C MANE Select	NP_005227.1:p.Asp509His