Canonical Allele Identifier: CA394818082

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038665G>C (hg19) ; chr16:g.13944808G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944808G>C , CM000678.2:g.13944808G>C	GRCh38
NC_000016.9:g.14038665G>C , CM000678.1:g.14038665G>C	GRCh37
NC_000016.8:g.13946166G>C	NCBI36
NG_011442.1:g.29652G>C , LRG_463:g.29652G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2128G>C	ENSP00000507912.1:p.Asp710His
ENST00000683962.1:c.*1684G>C	ENSP00000506854.1:n.*1684G>C
ENST00000311895.8:c.1990G>C MANE Select	ENSP00000310520.7:p.Asp664His
ENST00000311895.7:c.1990G>C	ENSP00000310520.7:p.Asp664His
ENST00000389138.7:n.1267G>C
ENST00000462862.1:c.303G>C	ENSP00000461322.1:n.303G>C
NM_005236.2:c.1990G>C , LRG_463t1:c.1990G>C	NP_005227.1:p.Asp664His
XM_011522424.1:c.2128G>C	XP_011520726.1:p.Asp710His
XM_011522425.1:c.1447G>C	XP_011520727.1:p.Asp483His
XM_011522426.1:c.1201G>C	XP_011520728.1:p.Asp401His
XM_011522427.1:c.640G>C	XP_011520729.1:p.Asp214His
XR_932805.1:n.2149G>C
XM_011522424.3:c.2128G>C	XP_011520726.1:p.Asp710His
XM_017023043.2:c.1201G>C	XP_016878532.1:p.Asp401His
NM_005236.3:c.1990G>C MANE Select	NP_005227.1:p.Asp664His