Canonical Allele Identifier: CA394812250

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029449A>C (hg19) ; chr16:g.13935592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935592A>C , CM000678.2:g.13935592A>C	GRCh38
NC_000016.9:g.14029449A>C , CM000678.1:g.14029449A>C	GRCh37
NC_000016.8:g.13936950A>C	NCBI36
NG_011442.1:g.20436A>C , LRG_463:g.20436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1738A>C
ENST00000682617.1:c.1798A>C	ENSP00000507912.1:p.Ile600Leu
ENST00000682826.1:c.*974A>C	ENSP00000507274.1:n.*974A>C
ENST00000682909.1:n.3700A>C
ENST00000683277.1:n.3305A>C
ENST00000683407.1:n.1668A>C
ENST00000683962.1:c.*1354A>C	ENSP00000506854.1:n.*1354A>C
ENST00000311895.8:c.1660A>C MANE Select	ENSP00000310520.7:p.Ile554Leu
ENST00000311895.7:c.1660A>C	ENSP00000310520.7:p.Ile554Leu
ENST00000389138.7:n.937A>C
NM_005236.2:c.1660A>C , LRG_463t1:c.1660A>C	NP_005227.1:p.Ile554Leu
XM_011522424.1:c.1798A>C	XP_011520726.1:p.Ile600Leu
XM_011522425.1:c.1117A>C	XP_011520727.1:p.Ile373Leu
XM_011522426.1:c.871A>C	XP_011520728.1:p.Ile291Leu
XM_011522427.1:c.310A>C	XP_011520729.1:p.Ile104Leu
XR_932805.1:n.1819A>C
XM_011522424.3:c.1798A>C	XP_011520726.1:p.Ile600Leu
XM_017023043.2:c.871A>C	XP_016878532.1:p.Ile291Leu
NM_005236.3:c.1660A>C MANE Select	NP_005227.1:p.Ile554Leu