Canonical Allele Identifier: CA394802259

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928059C>T , CM000678.2:g.13928059C>T	GRCh38
NC_000016.9:g.14021916C>T , CM000678.1:g.14021916C>T	GRCh37
NC_000016.8:g.13929417C>T	NCBI36
NG_011442.1:g.12903C>T , LRG_463:g.12903C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.616C>T MANE Select	NP_005227.1:p.Gln206Ter
ENST00000311895.8:c.616C>T MANE Select	ENSP00000310520.7:p.Gln206Ter
NM_005236.2:c.616C>T , LRG_463t1:c.616C>T	NP_005227.1:p.Gln206Ter
ENST00000311895.7:c.616C>T	ENSP00000310520.7:p.Gln206Ter
ENST00000574194.1:c.206-63C>T
ENST00000574781.1:n.293C>T
ENST00000575156.5:c.616C>T	ENSP00000459933.1:p.Gln206Ter
ENST00000682552.1:n.604C>T
ENST00000682568.1:n.546C>T
ENST00000682617.1:c.754C>T	ENSP00000507912.1:p.Gln252Ter
ENST00000682826.1:c.616C>T	ENSP00000507274.1:p.Gln206Ter
ENST00000682909.1:n.2656C>T
ENST00000683277.1:n.2261C>T
ENST00000683407.1:n.624C>T
ENST00000683962.1:c.*310C>T	ENSP00000506854.1:n.*310C>T
XM_011522424.1:c.754C>T	XP_011520726.1:p.Gln252Ter
XM_011522424.3:c.754C>T	XP_011520726.1:p.Gln252Ter
XM_011522425.1:c.73C>T	XP_011520727.1:p.Gln25Ter
XM_017023043.2:c.-322C>T	XP_016878532.1:n.-322C>T
XR_932805.1:n.775C>T