Canonical Allele Identifier: CA394824443

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042008T>C (hg19) ; chr16:g.13948151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948151T>C , CM000678.2:g.13948151T>C	GRCh38
NC_000016.9:g.14042008T>C , CM000678.1:g.14042008T>C	GRCh37
NC_000016.8:g.13949509T>C	NCBI36
NG_011442.1:g.32995T>C , LRG_463:g.32995T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2693T>C	ENSP00000507912.1:p.Leu898Ser
ENST00000683962.1:c.*2249T>C	ENSP00000506854.1:n.*2249T>C
ENST00000311895.8:c.2555T>C MANE Select	ENSP00000310520.7:p.Leu852Ser
ENST00000311895.7:c.2555T>C	ENSP00000310520.7:p.Leu852Ser
ENST00000389138.7:n.1832T>C
NM_005236.2:c.2555T>C , LRG_463t1:c.2555T>C	NP_005227.1:p.Leu852Ser
XM_011522424.1:c.2693T>C	XP_011520726.1:p.Leu898Ser
XM_011522425.1:c.2012T>C	XP_011520727.1:p.Leu671Ser
XM_011522426.1:c.1766T>C	XP_011520728.1:p.Leu589Ser
XM_011522427.1:c.1205T>C	XP_011520729.1:p.Leu402Ser
XR_932805.1:n.2714T>C
XM_011522424.3:c.2693T>C	XP_011520726.1:p.Leu898Ser
XM_017023043.2:c.1766T>C	XP_016878532.1:p.Leu589Ser
NM_005236.3:c.2555T>C MANE Select	NP_005227.1:p.Leu852Ser