Canonical Allele Identifier: CA394810215

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935323-A-C
• MyVariant Identifiers: chr16:g.14029180A>C (hg19) ; chr16:g.13935323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935323A>C , CM000678.2:g.13935323A>C	GRCh38
NC_000016.9:g.14029180A>C , CM000678.1:g.14029180A>C	GRCh37
NC_000016.8:g.13936681A>C	NCBI36
NG_011442.1:g.20167A>C , LRG_463:g.20167A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1469A>C
ENST00000682617.1:c.1529A>C	ENSP00000507912.1:p.Lys510Thr
ENST00000682826.1:c.*705A>C	ENSP00000507274.1:n.*705A>C
ENST00000682909.1:n.3431A>C
ENST00000683277.1:n.3036A>C
ENST00000683407.1:n.1399A>C
ENST00000683962.1:c.*1085A>C	ENSP00000506854.1:n.*1085A>C
ENST00000311895.8:c.1391A>C MANE Select	ENSP00000310520.7:p.Lys464Thr
ENST00000311895.7:c.1391A>C	ENSP00000310520.7:p.Lys464Thr
ENST00000389138.7:n.668A>C
ENST00000573018.1:n.459A>C
NM_005236.2:c.1391A>C , LRG_463t1:c.1391A>C	NP_005227.1:p.Lys464Thr
XM_011522424.1:c.1529A>C	XP_011520726.1:p.Lys510Thr
XM_011522425.1:c.848A>C	XP_011520727.1:p.Lys283Thr
XM_011522426.1:c.602A>C	XP_011520728.1:p.Lys201Thr
XM_011522427.1:c.41A>C	XP_011520729.1:p.Lys14Thr
XR_932805.1:n.1550A>C
XM_011522424.3:c.1529A>C	XP_011520726.1:p.Lys510Thr
XM_017023043.2:c.602A>C	XP_016878532.1:p.Lys201Thr
NM_005236.3:c.1391A>C MANE Select	NP_005227.1:p.Lys464Thr