Canonical Allele Identifier: CA394812577

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029533G>C (hg19) ; chr16:g.13935676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935676G>C , CM000678.2:g.13935676G>C	GRCh38
NC_000016.9:g.14029533G>C , CM000678.1:g.14029533G>C	GRCh37
NC_000016.8:g.13937034G>C	NCBI36
NG_011442.1:g.20520G>C , LRG_463:g.20520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1822G>C
ENST00000682617.1:c.1882G>C	ENSP00000507912.1:p.Asp628His
ENST00000682826.1:c.*1058G>C	ENSP00000507274.1:n.*1058G>C
ENST00000682909.1:n.3784G>C
ENST00000683277.1:n.3389G>C
ENST00000683407.1:n.1752G>C
ENST00000683962.1:c.*1438G>C	ENSP00000506854.1:n.*1438G>C
ENST00000311895.8:c.1744G>C MANE Select	ENSP00000310520.7:p.Asp582His
ENST00000311895.7:c.1744G>C	ENSP00000310520.7:p.Asp582His
ENST00000389138.7:n.1021G>C
NM_005236.2:c.1744G>C , LRG_463t1:c.1744G>C	NP_005227.1:p.Asp582His
XM_011522424.1:c.1882G>C	XP_011520726.1:p.Asp628His
XM_011522425.1:c.1201G>C	XP_011520727.1:p.Asp401His
XM_011522426.1:c.955G>C	XP_011520728.1:p.Asp319His
XM_011522427.1:c.394G>C	XP_011520729.1:p.Asp132His
XR_932805.1:n.1903G>C
XM_011522424.3:c.1882G>C	XP_011520726.1:p.Asp628His
XM_017023043.2:c.955G>C	XP_016878532.1:p.Asp319His
NM_005236.3:c.1744G>C MANE Select	NP_005227.1:p.Asp582His