Canonical Allele Identifier: CA493444408

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944813-T-C
• MyVariant Identifiers: chr16:g.14038670T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944813T>C , CM000678.2:g.13944813T>C	GRCh38
NC_000016.9:g.14038670T>C , CM000678.1:g.14038670T>C	GRCh37
NC_000016.8:g.13946171T>C	NCBI36
NG_011442.1:g.29657T>C , LRG_463:g.29657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2133T>C	ENSP00000507912.1:p.Val711=
ENST00000683962.1:c.*1689T>C	ENSP00000506854.1:n.*1689T>C
ENST00000311895.8:c.1995T>C MANE Select	ENSP00000310520.7:p.Val665=
ENST00000311895.7:c.1995T>C	ENSP00000310520.7:p.Val665=
ENST00000389138.7:n.1272T>C
ENST00000462862.1:c.308T>C	ENSP00000461322.1:n.308T>C
NM_005236.2:c.1995T>C , LRG_463t1:c.1995T>C	NP_005227.1:p.Val665=
XM_011522424.1:c.2133T>C	XP_011520726.1:p.Val711=
XM_011522425.1:c.1452T>C	XP_011520727.1:p.Val484=
XM_011522426.1:c.1206T>C	XP_011520728.1:p.Val402=
XM_011522427.1:c.645T>C	XP_011520729.1:p.Val215=
XR_932805.1:n.2154T>C
XM_011522424.3:c.2133T>C	XP_011520726.1:p.Val711=
XM_017023043.2:c.1206T>C	XP_016878532.1:p.Val402=
NM_005236.3:c.1995T>C MANE Select	NP_005227.1:p.Val665=