Canonical Allele Identifier: CA394811152

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935422-T-C
• MyVariant Identifiers: chr16:g.14029279T>C (hg19) ; chr16:g.13935422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935422T>C , CM000678.2:g.13935422T>C	GRCh38
NC_000016.9:g.14029279T>C , CM000678.1:g.14029279T>C	GRCh37
NC_000016.8:g.13936780T>C	NCBI36
NG_011442.1:g.20266T>C , LRG_463:g.20266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1568T>C
ENST00000682617.1:c.1628T>C	ENSP00000507912.1:p.Met543Thr
ENST00000682826.1:c.*804T>C	ENSP00000507274.1:n.*804T>C
ENST00000682909.1:n.3530T>C
ENST00000683277.1:n.3135T>C
ENST00000683407.1:n.1498T>C
ENST00000683962.1:c.*1184T>C	ENSP00000506854.1:n.*1184T>C
ENST00000311895.8:c.1490T>C MANE Select	ENSP00000310520.7:p.Met497Thr
ENST00000311895.7:c.1490T>C	ENSP00000310520.7:p.Met497Thr
ENST00000389138.7:n.767T>C
NM_005236.2:c.1490T>C , LRG_463t1:c.1490T>C	NP_005227.1:p.Met497Thr
XM_011522424.1:c.1628T>C	XP_011520726.1:p.Met543Thr
XM_011522425.1:c.947T>C	XP_011520727.1:p.Met316Thr
XM_011522426.1:c.701T>C	XP_011520728.1:p.Met234Thr
XM_011522427.1:c.140T>C	XP_011520729.1:p.Met47Thr
XR_932805.1:n.1649T>C
XM_011522424.3:c.1628T>C	XP_011520726.1:p.Met543Thr
XM_017023043.2:c.701T>C	XP_016878532.1:p.Met234Thr
NM_005236.3:c.1490T>C MANE Select	NP_005227.1:p.Met497Thr