Canonical Allele Identifier: CA394824473

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042020C>A (hg19) ; chr16:g.13948163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948163C>A , CM000678.2:g.13948163C>A	GRCh38
NC_000016.9:g.14042020C>A , CM000678.1:g.14042020C>A	GRCh37
NC_000016.8:g.13949521C>A	NCBI36
NG_011442.1:g.33007C>A , LRG_463:g.33007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2705C>A	ENSP00000507912.1:p.Pro902Gln
ENST00000683962.1:c.*2261C>A	ENSP00000506854.1:n.*2261C>A
ENST00000311895.8:c.2567C>A MANE Select	ENSP00000310520.7:p.Pro856Gln
ENST00000311895.7:c.2567C>A	ENSP00000310520.7:p.Pro856Gln
ENST00000389138.7:n.1844C>A
NM_005236.2:c.2567C>A , LRG_463t1:c.2567C>A	NP_005227.1:p.Pro856Gln
XM_011522424.1:c.2705C>A	XP_011520726.1:p.Pro902Gln
XM_011522425.1:c.2024C>A	XP_011520727.1:p.Pro675Gln
XM_011522426.1:c.1778C>A	XP_011520728.1:p.Pro593Gln
XM_011522427.1:c.1217C>A	XP_011520729.1:p.Pro406Gln
XR_932805.1:n.2726C>A
XM_011522424.3:c.2705C>A	XP_011520726.1:p.Pro902Gln
XM_017023043.2:c.1778C>A	XP_016878532.1:p.Pro593Gln
NM_005236.3:c.2567C>A MANE Select	NP_005227.1:p.Pro856Gln