Canonical Allele Identifier: CA394811617

Gene: ERCC4

Linked Data

• dbSNP Id: rs1317427563
• gnomAD v2: 16-14029363-G-T
• gnomAD v4: 16-13935506-G-T
• MyVariant Identifiers: chr16:g.14029363G>T (hg19) ; chr16:g.13935506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935506G>T , CM000678.2:g.13935506G>T	GRCh38
NC_000016.9:g.14029363G>T , CM000678.1:g.14029363G>T	GRCh37
NC_000016.8:g.13936864G>T	NCBI36
NG_011442.1:g.20350G>T , LRG_463:g.20350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1652G>T
ENST00000682617.1:c.1712G>T	ENSP00000507912.1:p.Cys571Phe
ENST00000682826.1:c.*888G>T	ENSP00000507274.1:n.*888G>T
ENST00000682909.1:n.3614G>T
ENST00000683277.1:n.3219G>T
ENST00000683407.1:n.1582G>T
ENST00000683962.1:c.*1268G>T	ENSP00000506854.1:n.*1268G>T
ENST00000311895.8:c.1574G>T MANE Select	ENSP00000310520.7:p.Cys525Phe
ENST00000311895.7:c.1574G>T	ENSP00000310520.7:p.Cys525Phe
ENST00000389138.7:n.851G>T
NM_005236.2:c.1574G>T , LRG_463t1:c.1574G>T	NP_005227.1:p.Cys525Phe
XM_011522424.1:c.1712G>T	XP_011520726.1:p.Cys571Phe
XM_011522425.1:c.1031G>T	XP_011520727.1:p.Cys344Phe
XM_011522426.1:c.785G>T	XP_011520728.1:p.Cys262Phe
XM_011522427.1:c.224G>T	XP_011520729.1:p.Cys75Phe
XR_932805.1:n.1733G>T
XM_011522424.3:c.1712G>T	XP_011520726.1:p.Cys571Phe
XM_017023043.2:c.785G>T	XP_016878532.1:p.Cys262Phe
NM_005236.3:c.1574G>T MANE Select	NP_005227.1:p.Cys525Phe