Canonical Allele Identifier: CA394812518

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029513C>T (hg19) ; chr16:g.13935656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935656C>T , CM000678.2:g.13935656C>T	GRCh38
NC_000016.9:g.14029513C>T , CM000678.1:g.14029513C>T	GRCh37
NC_000016.8:g.13937014C>T	NCBI36
NG_011442.1:g.20500C>T , LRG_463:g.20500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1802C>T
ENST00000682617.1:c.1862C>T	ENSP00000507912.1:p.Pro621Leu
ENST00000682826.1:c.*1038C>T	ENSP00000507274.1:n.*1038C>T
ENST00000682909.1:n.3764C>T
ENST00000683277.1:n.3369C>T
ENST00000683407.1:n.1732C>T
ENST00000683962.1:c.*1418C>T	ENSP00000506854.1:n.*1418C>T
ENST00000311895.8:c.1724C>T MANE Select	ENSP00000310520.7:p.Pro575Leu
ENST00000311895.7:c.1724C>T	ENSP00000310520.7:p.Pro575Leu
ENST00000389138.7:n.1001C>T
NM_005236.2:c.1724C>T , LRG_463t1:c.1724C>T	NP_005227.1:p.Pro575Leu
XM_011522424.1:c.1862C>T	XP_011520726.1:p.Pro621Leu
XM_011522425.1:c.1181C>T	XP_011520727.1:p.Pro394Leu
XM_011522426.1:c.935C>T	XP_011520728.1:p.Pro312Leu
XM_011522427.1:c.374C>T	XP_011520729.1:p.Pro125Leu
XR_932805.1:n.1883C>T
XM_011522424.3:c.1862C>T	XP_011520726.1:p.Pro621Leu
XM_017023043.2:c.935C>T	XP_016878532.1:p.Pro312Leu
NM_005236.3:c.1724C>T MANE Select	NP_005227.1:p.Pro575Leu