Canonical Allele Identifier: CA394812595

Gene: ERCC4

Linked Data

• dbSNP Id: rs1277083545
• gnomAD v2: 16-14029537-C-T
• gnomAD v3: 16-13935680-C-T
• gnomAD v4: 16-13935680-C-T
• MyVariant Identifiers: chr16:g.14029537C>T (hg19) ; chr16:g.13935680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935680C>T , CM000678.2:g.13935680C>T	GRCh38
NC_000016.9:g.14029537C>T , CM000678.1:g.14029537C>T	GRCh37
NC_000016.8:g.13937038C>T	NCBI36
NG_011442.1:g.20524C>T , LRG_463:g.20524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1826C>T
ENST00000682617.1:c.1886C>T	ENSP00000507912.1:p.Ala629Val
ENST00000682826.1:c.*1062C>T	ENSP00000507274.1:n.*1062C>T
ENST00000682909.1:n.3788C>T
ENST00000683277.1:n.3393C>T
ENST00000683407.1:n.1756C>T
ENST00000683962.1:c.*1442C>T	ENSP00000506854.1:n.*1442C>T
ENST00000311895.8:c.1748C>T MANE Select	ENSP00000310520.7:p.Ala583Val
ENST00000311895.7:c.1748C>T	ENSP00000310520.7:p.Ala583Val
ENST00000389138.7:n.1025C>T
NM_005236.2:c.1748C>T , LRG_463t1:c.1748C>T	NP_005227.1:p.Ala583Val
XM_011522424.1:c.1886C>T	XP_011520726.1:p.Ala629Val
XM_011522425.1:c.1205C>T	XP_011520727.1:p.Ala402Val
XM_011522426.1:c.959C>T	XP_011520728.1:p.Ala320Val
XM_011522427.1:c.398C>T	XP_011520729.1:p.Ala133Val
XR_932805.1:n.1907C>T
XM_011522424.3:c.1886C>T	XP_011520726.1:p.Ala629Val
XM_017023043.2:c.959C>T	XP_016878532.1:p.Ala320Val
NM_005236.3:c.1748C>T MANE Select	NP_005227.1:p.Ala583Val