Canonical Allele Identifier: CA493444490

Gene: ERCC4

Linked Data

• dbSNP Id: rs16963255
• gnomAD v4: 16-13948251-G-C
• MyVariant Identifiers: chr16:g.14042108G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948251G>C , CM000678.2:g.13948251G>C	GRCh38
NC_000016.9:g.14042108G>C , CM000678.1:g.14042108G>C	GRCh37
NC_000016.8:g.13949609G>C	NCBI36
NG_011442.1:g.33095G>C , LRG_463:g.33095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2793G>C	ENSP00000507912.1:p.Thr931=
ENST00000683962.1:c.*2349G>C	ENSP00000506854.1:n.*2349G>C
ENST00000311895.8:c.2655G>C MANE Select	ENSP00000310520.7:p.Thr885=
ENST00000311895.7:c.2655G>C	ENSP00000310520.7:p.Thr885=
ENST00000389138.7:n.1932G>C
NM_005236.2:c.2655G>C , LRG_463t1:c.2655G>C	NP_005227.1:p.Thr885=
XM_011522424.1:c.2793G>C	XP_011520726.1:p.Thr931=
XM_011522425.1:c.2112G>C	XP_011520727.1:p.Thr704=
XM_011522426.1:c.1866G>C	XP_011520728.1:p.Thr622=
XM_011522427.1:c.1305G>C	XP_011520729.1:p.Thr435=
XR_932805.1:n.2814G>C
XM_011522424.3:c.2793G>C	XP_011520726.1:p.Thr931=
XM_017023043.2:c.1866G>C	XP_016878532.1:p.Thr622=
NM_005236.3:c.2655G>C MANE Select	NP_005227.1:p.Thr885=