Canonical Allele Identifier: CA394811743

Gene: ERCC4

Linked Data

• dbSNP Id: rs1255260276
• gnomAD v2: 16-14029378-A-T
• gnomAD v4: 16-13935521-A-T
• MyVariant Identifiers: chr16:g.14029378A>T (hg19) ; chr16:g.13935521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935521A>T , CM000678.2:g.13935521A>T	GRCh38
NC_000016.9:g.14029378A>T , CM000678.1:g.14029378A>T	GRCh37
NC_000016.8:g.13936879A>T	NCBI36
NG_011442.1:g.20365A>T , LRG_463:g.20365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1667A>T
ENST00000682617.1:c.1727A>T	ENSP00000507912.1:p.Lys576Met
ENST00000682826.1:c.*903A>T	ENSP00000507274.1:n.*903A>T
ENST00000682909.1:n.3629A>T
ENST00000683277.1:n.3234A>T
ENST00000683407.1:n.1597A>T
ENST00000683962.1:c.*1283A>T	ENSP00000506854.1:n.*1283A>T
ENST00000311895.8:c.1589A>T MANE Select	ENSP00000310520.7:p.Lys530Met
ENST00000311895.7:c.1589A>T	ENSP00000310520.7:p.Lys530Met
ENST00000389138.7:n.866A>T
NM_005236.2:c.1589A>T , LRG_463t1:c.1589A>T	NP_005227.1:p.Lys530Met
XM_011522424.1:c.1727A>T	XP_011520726.1:p.Lys576Met
XM_011522425.1:c.1046A>T	XP_011520727.1:p.Lys349Met
XM_011522426.1:c.800A>T	XP_011520728.1:p.Lys267Met
XM_011522427.1:c.239A>T	XP_011520729.1:p.Lys80Met
XR_932805.1:n.1748A>T
XM_011522424.3:c.1727A>T	XP_011520726.1:p.Lys576Met
XM_017023043.2:c.800A>T	XP_016878532.1:p.Lys267Met
NM_005236.3:c.1589A>T MANE Select	NP_005227.1:p.Lys530Met