Canonical Allele Identifier: CA394812075

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029426T>C (hg19) ; chr16:g.13935569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935569T>C , CM000678.2:g.13935569T>C	GRCh38
NC_000016.9:g.14029426T>C , CM000678.1:g.14029426T>C	GRCh37
NC_000016.8:g.13936927T>C	NCBI36
NG_011442.1:g.20413T>C , LRG_463:g.20413T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1715T>C
ENST00000682617.1:c.1775T>C	ENSP00000507912.1:p.Ile592Thr
ENST00000682826.1:c.*951T>C	ENSP00000507274.1:n.*951T>C
ENST00000682909.1:n.3677T>C
ENST00000683277.1:n.3282T>C
ENST00000683407.1:n.1645T>C
ENST00000683962.1:c.*1331T>C	ENSP00000506854.1:n.*1331T>C
ENST00000311895.8:c.1637T>C MANE Select	ENSP00000310520.7:p.Ile546Thr
ENST00000311895.7:c.1637T>C	ENSP00000310520.7:p.Ile546Thr
ENST00000389138.7:n.914T>C
NM_005236.2:c.1637T>C , LRG_463t1:c.1637T>C	NP_005227.1:p.Ile546Thr
XM_011522424.1:c.1775T>C	XP_011520726.1:p.Ile592Thr
XM_011522425.1:c.1094T>C	XP_011520727.1:p.Ile365Thr
XM_011522426.1:c.848T>C	XP_011520728.1:p.Ile283Thr
XM_011522427.1:c.287T>C	XP_011520729.1:p.Ile96Thr
XR_932805.1:n.1796T>C
XM_011522424.3:c.1775T>C	XP_011520726.1:p.Ile592Thr
XM_017023043.2:c.848T>C	XP_016878532.1:p.Ile283Thr
NM_005236.3:c.1637T>C MANE Select	NP_005227.1:p.Ile546Thr