Canonical Allele Identifier: CA394817395

Gene: ERCC4

Linked Data

• dbSNP Id: rs1461805103
• gnomAD v2: 16-14038594-T-C
• gnomAD v4: 16-13944737-T-C
• MyVariant Identifiers: chr16:g.14038594T>C (hg19) ; chr16:g.13944737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944737T>C , CM000678.2:g.13944737T>C	GRCh38
NC_000016.9:g.14038594T>C , CM000678.1:g.14038594T>C	GRCh37
NC_000016.8:g.13946095T>C	NCBI36
NG_011442.1:g.29581T>C , LRG_463:g.29581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2057T>C	ENSP00000507912.1:p.Met686Thr
ENST00000683962.1:c.*1613T>C	ENSP00000506854.1:n.*1613T>C
ENST00000311895.8:c.1919T>C MANE Select	ENSP00000310520.7:p.Met640Thr
ENST00000311895.7:c.1919T>C	ENSP00000310520.7:p.Met640Thr
ENST00000389138.7:n.1196T>C
ENST00000462862.1:c.232T>C	ENSP00000461322.1:n.232T>C
NM_005236.2:c.1919T>C , LRG_463t1:c.1919T>C	NP_005227.1:p.Met640Thr
XM_011522424.1:c.2057T>C	XP_011520726.1:p.Met686Thr
XM_011522425.1:c.1376T>C	XP_011520727.1:p.Met459Thr
XM_011522426.1:c.1130T>C	XP_011520728.1:p.Met377Thr
XM_011522427.1:c.569T>C	XP_011520729.1:p.Met190Thr
XR_932805.1:n.2078T>C
XM_011522424.3:c.2057T>C	XP_011520726.1:p.Met686Thr
XM_017023043.2:c.1130T>C	XP_016878532.1:p.Met377Thr
NM_005236.3:c.1919T>C MANE Select	NP_005227.1:p.Met640Thr