Canonical Allele Identifier: CA394812361

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029468G>T (hg19) ; chr16:g.13935611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935611G>T , CM000678.2:g.13935611G>T	GRCh38
NC_000016.9:g.14029468G>T , CM000678.1:g.14029468G>T	GRCh37
NC_000016.8:g.13936969G>T	NCBI36
NG_011442.1:g.20455G>T , LRG_463:g.20455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1757G>T
ENST00000682617.1:c.1817G>T	ENSP00000507912.1:p.Cys606Phe
ENST00000682826.1:c.*993G>T	ENSP00000507274.1:n.*993G>T
ENST00000682909.1:n.3719G>T
ENST00000683277.1:n.3324G>T
ENST00000683407.1:n.1687G>T
ENST00000683962.1:c.*1373G>T	ENSP00000506854.1:n.*1373G>T
ENST00000311895.8:c.1679G>T MANE Select	ENSP00000310520.7:p.Cys560Phe
ENST00000311895.7:c.1679G>T	ENSP00000310520.7:p.Cys560Phe
ENST00000389138.7:n.956G>T
NM_005236.2:c.1679G>T , LRG_463t1:c.1679G>T	NP_005227.1:p.Cys560Phe
XM_011522424.1:c.1817G>T	XP_011520726.1:p.Cys606Phe
XM_011522425.1:c.1136G>T	XP_011520727.1:p.Cys379Phe
XM_011522426.1:c.890G>T	XP_011520728.1:p.Cys297Phe
XM_011522427.1:c.329G>T	XP_011520729.1:p.Cys110Phe
XR_932805.1:n.1838G>T
XM_011522424.3:c.1817G>T	XP_011520726.1:p.Cys606Phe
XM_017023043.2:c.890G>T	XP_016878532.1:p.Cys297Phe
NM_005236.3:c.1679G>T MANE Select	NP_005227.1:p.Cys560Phe