Canonical Allele Identifier: CA493689723

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029283A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935426A>C , CM000678.2:g.13935426A>C	GRCh38
NC_000016.9:g.14029283A>C , CM000678.1:g.14029283A>C	GRCh37
NC_000016.8:g.13936784A>C	NCBI36
NG_011442.1:g.20270A>C , LRG_463:g.20270A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1572A>C
ENST00000682617.1:c.1632A>C	ENSP00000507912.1:p.Val544=
ENST00000682826.1:c.*808A>C	ENSP00000507274.1:n.*808A>C
ENST00000682909.1:n.3534A>C
ENST00000683277.1:n.3139A>C
ENST00000683407.1:n.1502A>C
ENST00000683962.1:c.*1188A>C	ENSP00000506854.1:n.*1188A>C
ENST00000311895.8:c.1494A>C MANE Select	ENSP00000310520.7:p.Val498=
ENST00000311895.7:c.1494A>C	ENSP00000310520.7:p.Val498=
ENST00000389138.7:n.771A>C
NM_005236.2:c.1494A>C , LRG_463t1:c.1494A>C	NP_005227.1:p.Val498=
XM_011522424.1:c.1632A>C	XP_011520726.1:p.Val544=
XM_011522425.1:c.951A>C	XP_011520727.1:p.Val317=
XM_011522426.1:c.705A>C	XP_011520728.1:p.Val235=
XM_011522427.1:c.144A>C	XP_011520729.1:p.Val48=
XR_932805.1:n.1653A>C
XM_011522424.3:c.1632A>C	XP_011520726.1:p.Val544=
XM_017023043.2:c.705A>C	XP_016878532.1:p.Val235=
NM_005236.3:c.1494A>C MANE Select	NP_005227.1:p.Val498=