Canonical Allele Identifier: CA394803109

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13928207-A-C
• MyVariant Identifiers: chr16:g.14022064A>C (hg19) ; chr16:g.13928207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928207A>C , CM000678.2:g.13928207A>C	GRCh38
NC_000016.9:g.14022064A>C , CM000678.1:g.14022064A>C	GRCh37
NC_000016.8:g.13929565A>C	NCBI36
NG_011442.1:g.13051A>C , LRG_463:g.13051A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.752A>C
ENST00000682568.1:n.694A>C
ENST00000682617.1:c.902A>C	ENSP00000507912.1:p.Glu301Ala
ENST00000682826.1:c.764A>C	ENSP00000507274.1:p.Glu255Ala
ENST00000682909.1:n.2804A>C
ENST00000683277.1:n.2409A>C
ENST00000683407.1:n.772A>C
ENST00000683962.1:c.*458A>C	ENSP00000506854.1:n.*458A>C
ENST00000311895.8:c.764A>C MANE Select	ENSP00000310520.7:p.Glu255Ala
ENST00000311895.7:c.764A>C	ENSP00000310520.7:p.Glu255Ala
ENST00000574194.1:c.291A>C
ENST00000574781.1:n.441A>C
ENST00000575156.5:c.764A>C	ENSP00000459933.1:p.Glu255Ala
NM_005236.2:c.764A>C , LRG_463t1:c.764A>C	NP_005227.1:p.Glu255Ala
XM_011522424.1:c.902A>C	XP_011520726.1:p.Glu301Ala
XM_011522425.1:c.221A>C	XP_011520727.1:p.Glu74Ala
XR_932805.1:n.923A>C
XM_011522424.3:c.902A>C	XP_011520726.1:p.Glu301Ala
XM_017023043.2:c.-174A>C	XP_016878532.1:n.-174A>C
NM_005236.3:c.764A>C MANE Select	NP_005227.1:p.Glu255Ala