Canonical Allele Identifier: CA394812499

Gene: ERCC4

Linked Data

• dbSNP Id: rs1302617226
• gnomAD v2: 16-14029506-G-A
• gnomAD v4: 16-13935649-G-A
• MyVariant Identifiers: chr16:g.14029506G>A (hg19) ; chr16:g.13935649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935649G>A , CM000678.2:g.13935649G>A	GRCh38
NC_000016.9:g.14029506G>A , CM000678.1:g.14029506G>A	GRCh37
NC_000016.8:g.13937007G>A	NCBI36
NG_011442.1:g.20493G>A , LRG_463:g.20493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1795G>A
ENST00000682617.1:c.1855G>A	ENSP00000507912.1:p.Val619Met
ENST00000682826.1:c.*1031G>A	ENSP00000507274.1:n.*1031G>A
ENST00000682909.1:n.3757G>A
ENST00000683277.1:n.3362G>A
ENST00000683407.1:n.1725G>A
ENST00000683962.1:c.*1411G>A	ENSP00000506854.1:n.*1411G>A
ENST00000311895.8:c.1717G>A MANE Select	ENSP00000310520.7:p.Val573Met
ENST00000311895.7:c.1717G>A	ENSP00000310520.7:p.Val573Met
ENST00000389138.7:n.994G>A
NM_005236.2:c.1717G>A , LRG_463t1:c.1717G>A	NP_005227.1:p.Val573Met
XM_011522424.1:c.1855G>A	XP_011520726.1:p.Val619Met
XM_011522425.1:c.1174G>A	XP_011520727.1:p.Val392Met
XM_011522426.1:c.928G>A	XP_011520728.1:p.Val310Met
XM_011522427.1:c.367G>A	XP_011520729.1:p.Val123Met
XR_932805.1:n.1876G>A
XM_011522424.3:c.1855G>A	XP_011520726.1:p.Val619Met
XM_017023043.2:c.928G>A	XP_016878532.1:p.Val310Met
NM_005236.3:c.1717G>A MANE Select	NP_005227.1:p.Val573Met