Canonical Allele Identifier: CA394812545

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935670-C-T
• MyVariant Identifiers: chr16:g.14029527C>T (hg19) ; chr16:g.13935670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935670C>T , CM000678.2:g.13935670C>T	GRCh38
NC_000016.9:g.14029527C>T , CM000678.1:g.14029527C>T	GRCh37
NC_000016.8:g.13937028C>T	NCBI36
NG_011442.1:g.20514C>T , LRG_463:g.20514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1816C>T
ENST00000682617.1:c.1876C>T	ENSP00000507912.1:p.Leu626Phe
ENST00000682826.1:c.*1052C>T	ENSP00000507274.1:n.*1052C>T
ENST00000682909.1:n.3778C>T
ENST00000683277.1:n.3383C>T
ENST00000683407.1:n.1746C>T
ENST00000683962.1:c.*1432C>T	ENSP00000506854.1:n.*1432C>T
ENST00000311895.8:c.1738C>T MANE Select	ENSP00000310520.7:p.Leu580Phe
ENST00000311895.7:c.1738C>T	ENSP00000310520.7:p.Leu580Phe
ENST00000389138.7:n.1015C>T
NM_005236.2:c.1738C>T , LRG_463t1:c.1738C>T	NP_005227.1:p.Leu580Phe
XM_011522424.1:c.1876C>T	XP_011520726.1:p.Leu626Phe
XM_011522425.1:c.1195C>T	XP_011520727.1:p.Leu399Phe
XM_011522426.1:c.949C>T	XP_011520728.1:p.Leu317Phe
XM_011522427.1:c.388C>T	XP_011520729.1:p.Leu130Phe
XR_932805.1:n.1897C>T
XM_011522424.3:c.1876C>T	XP_011520726.1:p.Leu626Phe
XM_017023043.2:c.949C>T	XP_016878532.1:p.Leu317Phe
NM_005236.3:c.1738C>T MANE Select	NP_005227.1:p.Leu580Phe