Canonical Allele Identifier: CA394824605

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042068A>C (hg19) ; chr16:g.13948211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948211A>C , CM000678.2:g.13948211A>C	GRCh38
NC_000016.9:g.14042068A>C , CM000678.1:g.14042068A>C	GRCh37
NC_000016.8:g.13949569A>C	NCBI36
NG_011442.1:g.33055A>C , LRG_463:g.33055A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2753A>C	ENSP00000507912.1:p.Asn918Thr
ENST00000683962.1:c.*2309A>C	ENSP00000506854.1:n.*2309A>C
ENST00000311895.8:c.2615A>C MANE Select	ENSP00000310520.7:p.Asn872Thr
ENST00000311895.7:c.2615A>C	ENSP00000310520.7:p.Asn872Thr
ENST00000389138.7:n.1892A>C
NM_005236.2:c.2615A>C , LRG_463t1:c.2615A>C	NP_005227.1:p.Asn872Thr
XM_011522424.1:c.2753A>C	XP_011520726.1:p.Asn918Thr
XM_011522425.1:c.2072A>C	XP_011520727.1:p.Asn691Thr
XM_011522426.1:c.1826A>C	XP_011520728.1:p.Asn609Thr
XM_011522427.1:c.1265A>C	XP_011520729.1:p.Asn422Thr
XR_932805.1:n.2774A>C
XM_011522424.3:c.2753A>C	XP_011520726.1:p.Asn918Thr
XM_017023043.2:c.1826A>C	XP_016878532.1:p.Asn609Thr
NM_005236.3:c.2615A>C MANE Select	NP_005227.1:p.Asn872Thr