Canonical Allele Identifier: CA394812461

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935629-T-C
• MyVariant Identifiers: chr16:g.14029486T>C (hg19) ; chr16:g.13935629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935629T>C , CM000678.2:g.13935629T>C	GRCh38
NC_000016.9:g.14029486T>C , CM000678.1:g.14029486T>C	GRCh37
NC_000016.8:g.13936987T>C	NCBI36
NG_011442.1:g.20473T>C , LRG_463:g.20473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1775T>C
ENST00000682617.1:c.1835T>C	ENSP00000507912.1:p.Leu612Pro
ENST00000682826.1:c.*1011T>C	ENSP00000507274.1:n.*1011T>C
ENST00000682909.1:n.3737T>C
ENST00000683277.1:n.3342T>C
ENST00000683407.1:n.1705T>C
ENST00000683962.1:c.*1391T>C	ENSP00000506854.1:n.*1391T>C
ENST00000311895.8:c.1697T>C MANE Select	ENSP00000310520.7:p.Leu566Pro
ENST00000311895.7:c.1697T>C	ENSP00000310520.7:p.Leu566Pro
ENST00000389138.7:n.974T>C
NM_005236.2:c.1697T>C , LRG_463t1:c.1697T>C	NP_005227.1:p.Leu566Pro
XM_011522424.1:c.1835T>C	XP_011520726.1:p.Leu612Pro
XM_011522425.1:c.1154T>C	XP_011520727.1:p.Leu385Pro
XM_011522426.1:c.908T>C	XP_011520728.1:p.Leu303Pro
XM_011522427.1:c.347T>C	XP_011520729.1:p.Leu116Pro
XR_932805.1:n.1856T>C
XM_011522424.3:c.1835T>C	XP_011520726.1:p.Leu612Pro
XM_017023043.2:c.908T>C	XP_016878532.1:p.Leu303Pro
NM_005236.3:c.1697T>C MANE Select	NP_005227.1:p.Leu566Pro