Canonical Allele Identifier: CA394811630

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029365C>T (hg19) ; chr16:g.13935508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935508C>T , CM000678.2:g.13935508C>T	GRCh38
NC_000016.9:g.14029365C>T , CM000678.1:g.14029365C>T	GRCh37
NC_000016.8:g.13936866C>T	NCBI36
NG_011442.1:g.20352C>T , LRG_463:g.20352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1654C>T
ENST00000682617.1:c.1714C>T	ENSP00000507912.1:p.Pro572Ser
ENST00000682826.1:c.*890C>T	ENSP00000507274.1:n.*890C>T
ENST00000682909.1:n.3616C>T
ENST00000683277.1:n.3221C>T
ENST00000683407.1:n.1584C>T
ENST00000683962.1:c.*1270C>T	ENSP00000506854.1:n.*1270C>T
ENST00000311895.8:c.1576C>T MANE Select	ENSP00000310520.7:p.Pro526Ser
ENST00000311895.7:c.1576C>T	ENSP00000310520.7:p.Pro526Ser
ENST00000389138.7:n.853C>T
NM_005236.2:c.1576C>T , LRG_463t1:c.1576C>T	NP_005227.1:p.Pro526Ser
XM_011522424.1:c.1714C>T	XP_011520726.1:p.Pro572Ser
XM_011522425.1:c.1033C>T	XP_011520727.1:p.Pro345Ser
XM_011522426.1:c.787C>T	XP_011520728.1:p.Pro263Ser
XM_011522427.1:c.226C>T	XP_011520729.1:p.Pro76Ser
XR_932805.1:n.1735C>T
XM_011522424.3:c.1714C>T	XP_011520726.1:p.Pro572Ser
XM_017023043.2:c.787C>T	XP_016878532.1:p.Pro263Ser
NM_005236.3:c.1576C>T MANE Select	NP_005227.1:p.Pro526Ser