Canonical Allele Identifier: CA394812447

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029482G>T (hg19) ; chr16:g.13935625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935625G>T , CM000678.2:g.13935625G>T	GRCh38
NC_000016.9:g.14029482G>T , CM000678.1:g.14029482G>T	GRCh37
NC_000016.8:g.13936983G>T	NCBI36
NG_011442.1:g.20469G>T , LRG_463:g.20469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1771G>T
ENST00000682617.1:c.1831G>T	ENSP00000507912.1:p.Ala611Ser
ENST00000682826.1:c.*1007G>T	ENSP00000507274.1:n.*1007G>T
ENST00000682909.1:n.3733G>T
ENST00000683277.1:n.3338G>T
ENST00000683407.1:n.1701G>T
ENST00000683962.1:c.*1387G>T	ENSP00000506854.1:n.*1387G>T
ENST00000311895.8:c.1693G>T MANE Select	ENSP00000310520.7:p.Ala565Ser
ENST00000311895.7:c.1693G>T	ENSP00000310520.7:p.Ala565Ser
ENST00000389138.7:n.970G>T
NM_005236.2:c.1693G>T , LRG_463t1:c.1693G>T	NP_005227.1:p.Ala565Ser
XM_011522424.1:c.1831G>T	XP_011520726.1:p.Ala611Ser
XM_011522425.1:c.1150G>T	XP_011520727.1:p.Ala384Ser
XM_011522426.1:c.904G>T	XP_011520728.1:p.Ala302Ser
XM_011522427.1:c.343G>T	XP_011520729.1:p.Ala115Ser
XR_932805.1:n.1852G>T
XM_011522424.3:c.1831G>T	XP_011520726.1:p.Ala611Ser
XM_017023043.2:c.904G>T	XP_016878532.1:p.Ala302Ser
NM_005236.3:c.1693G>T MANE Select	NP_005227.1:p.Ala565Ser