Canonical Allele Identifier: CA394812102

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029429T>A (hg19) ; chr16:g.13935572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935572T>A , CM000678.2:g.13935572T>A	GRCh38
NC_000016.9:g.14029429T>A , CM000678.1:g.14029429T>A	GRCh37
NC_000016.8:g.13936930T>A	NCBI36
NG_011442.1:g.20416T>A , LRG_463:g.20416T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1718T>A
ENST00000682617.1:c.1778T>A	ENSP00000507912.1:p.Leu593Gln
ENST00000682826.1:c.*954T>A	ENSP00000507274.1:n.*954T>A
ENST00000682909.1:n.3680T>A
ENST00000683277.1:n.3285T>A
ENST00000683407.1:n.1648T>A
ENST00000683962.1:c.*1334T>A	ENSP00000506854.1:n.*1334T>A
ENST00000311895.8:c.1640T>A MANE Select	ENSP00000310520.7:p.Leu547Gln
ENST00000311895.7:c.1640T>A	ENSP00000310520.7:p.Leu547Gln
ENST00000389138.7:n.917T>A
NM_005236.2:c.1640T>A , LRG_463t1:c.1640T>A	NP_005227.1:p.Leu547Gln
XM_011522424.1:c.1778T>A	XP_011520726.1:p.Leu593Gln
XM_011522425.1:c.1097T>A	XP_011520727.1:p.Leu366Gln
XM_011522426.1:c.851T>A	XP_011520728.1:p.Leu284Gln
XM_011522427.1:c.290T>A	XP_011520729.1:p.Leu97Gln
XR_932805.1:n.1799T>A
XM_011522424.3:c.1778T>A	XP_011520726.1:p.Leu593Gln
XM_017023043.2:c.851T>A	XP_016878532.1:p.Leu284Gln
NM_005236.3:c.1640T>A MANE Select	NP_005227.1:p.Leu547Gln