Canonical Allele Identifier: CA394811601

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029360G>C (hg19) ; chr16:g.13935503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935503G>C , CM000678.2:g.13935503G>C	GRCh38
NC_000016.9:g.14029360G>C , CM000678.1:g.14029360G>C	GRCh37
NC_000016.8:g.13936861G>C	NCBI36
NG_011442.1:g.20347G>C , LRG_463:g.20347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1649G>C
ENST00000682617.1:c.1709G>C	ENSP00000507912.1:p.Ser570Thr
ENST00000682826.1:c.*885G>C	ENSP00000507274.1:n.*885G>C
ENST00000682909.1:n.3611G>C
ENST00000683277.1:n.3216G>C
ENST00000683407.1:n.1579G>C
ENST00000683962.1:c.*1265G>C	ENSP00000506854.1:n.*1265G>C
ENST00000311895.8:c.1571G>C MANE Select	ENSP00000310520.7:p.Ser524Thr
ENST00000311895.7:c.1571G>C	ENSP00000310520.7:p.Ser524Thr
ENST00000389138.7:n.848G>C
NM_005236.2:c.1571G>C , LRG_463t1:c.1571G>C	NP_005227.1:p.Ser524Thr
XM_011522424.1:c.1709G>C	XP_011520726.1:p.Ser570Thr
XM_011522425.1:c.1028G>C	XP_011520727.1:p.Ser343Thr
XM_011522426.1:c.782G>C	XP_011520728.1:p.Ser261Thr
XM_011522427.1:c.221G>C	XP_011520729.1:p.Ser74Thr
XR_932805.1:n.1730G>C
XM_011522424.3:c.1709G>C	XP_011520726.1:p.Ser570Thr
XM_017023043.2:c.782G>C	XP_016878532.1:p.Ser261Thr
NM_005236.3:c.1571G>C MANE Select	NP_005227.1:p.Ser524Thr