Canonical Allele Identifier: CA394812044

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029419T>A (hg19) ; chr16:g.13935562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935562T>A , CM000678.2:g.13935562T>A	GRCh38
NC_000016.9:g.14029419T>A , CM000678.1:g.14029419T>A	GRCh37
NC_000016.8:g.13936920T>A	NCBI36
NG_011442.1:g.20406T>A , LRG_463:g.20406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1708T>A
ENST00000682617.1:c.1768T>A	ENSP00000507912.1:p.Phe590Ile
ENST00000682826.1:c.*944T>A	ENSP00000507274.1:n.*944T>A
ENST00000682909.1:n.3670T>A
ENST00000683277.1:n.3275T>A
ENST00000683407.1:n.1638T>A
ENST00000683962.1:c.*1324T>A	ENSP00000506854.1:n.*1324T>A
ENST00000311895.8:c.1630T>A MANE Select	ENSP00000310520.7:p.Phe544Ile
ENST00000311895.7:c.1630T>A	ENSP00000310520.7:p.Phe544Ile
ENST00000389138.7:n.907T>A
NM_005236.2:c.1630T>A , LRG_463t1:c.1630T>A	NP_005227.1:p.Phe544Ile
XM_011522424.1:c.1768T>A	XP_011520726.1:p.Phe590Ile
XM_011522425.1:c.1087T>A	XP_011520727.1:p.Phe363Ile
XM_011522426.1:c.841T>A	XP_011520728.1:p.Phe281Ile
XM_011522427.1:c.280T>A	XP_011520729.1:p.Phe94Ile
XR_932805.1:n.1789T>A
XM_011522424.3:c.1768T>A	XP_011520726.1:p.Phe590Ile
XM_017023043.2:c.841T>A	XP_016878532.1:p.Phe281Ile
NM_005236.3:c.1630T>A MANE Select	NP_005227.1:p.Phe544Ile