Canonical Allele Identifier: CA493690007

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947948T>C , CM000678.2:g.13947948T>C	GRCh38
NC_000016.9:g.14041805T>C , CM000678.1:g.14041805T>C	GRCh37
NC_000016.8:g.13949306T>C	NCBI36
NG_011442.1:g.32792T>C , LRG_463:g.32792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2490T>C	ENSP00000507912.1:p.Ile830=
ENST00000683962.1:c.*2046T>C	ENSP00000506854.1:n.*2046T>C
ENST00000311895.8:c.2352T>C MANE Select	ENSP00000310520.7:p.Ile784=
ENST00000311895.7:c.2352T>C	ENSP00000310520.7:p.Ile784=
ENST00000389138.7:n.1629T>C
ENST00000462862.1:c.665T>C	ENSP00000461322.1:n.665T>C
NM_005236.2:c.2352T>C , LRG_463t1:c.2352T>C	NP_005227.1:p.Ile784=
XM_011522424.1:c.2490T>C	XP_011520726.1:p.Ile830=
XM_011522425.1:c.1809T>C	XP_011520727.1:p.Ile603=
XM_011522426.1:c.1563T>C	XP_011520728.1:p.Ile521=
XM_011522427.1:c.1002T>C	XP_011520729.1:p.Ile334=
XR_932805.1:n.2511T>C
XM_011522424.3:c.2490T>C	XP_011520726.1:p.Ile830=
XM_017023043.2:c.1563T>C	XP_016878532.1:p.Ile521=
NM_005236.3:c.2352T>C MANE Select	NP_005227.1:p.Ile784=