Canonical Allele Identifier: CA493444400

Gene: ERCC4

Linked Data

• dbSNP Id: rs373237850
• gnomAD v2: 16-14038658-A-C
• gnomAD v4: 16-13944801-A-C
• MyVariant Identifiers: chr16:g.14038658A>C (hg19) ; chr16:g.13944801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944801A>C , CM000678.2:g.13944801A>C	GRCh38
NC_000016.9:g.14038658A>C , CM000678.1:g.14038658A>C	GRCh37
NC_000016.8:g.13946159A>C	NCBI36
NG_011442.1:g.29645A>C , LRG_463:g.29645A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2121A>C	ENSP00000507912.1:p.Ala707=
ENST00000683962.1:c.*1677A>C	ENSP00000506854.1:n.*1677A>C
ENST00000311895.8:c.1983A>C MANE Select	ENSP00000310520.7:p.Ala661=
ENST00000311895.7:c.1983A>C	ENSP00000310520.7:p.Ala661=
ENST00000389138.7:n.1260A>C
ENST00000462862.1:c.296A>C	ENSP00000461322.1:n.296A>C
NM_005236.2:c.1983A>C , LRG_463t1:c.1983A>C	NP_005227.1:p.Ala661=
XM_011522424.1:c.2121A>C	XP_011520726.1:p.Ala707=
XM_011522425.1:c.1440A>C	XP_011520727.1:p.Ala480=
XM_011522426.1:c.1194A>C	XP_011520728.1:p.Ala398=
XM_011522427.1:c.633A>C	XP_011520729.1:p.Ala211=
XR_932805.1:n.2142A>C
XM_011522424.3:c.2121A>C	XP_011520726.1:p.Ala707=
XM_017023043.2:c.1194A>C	XP_016878532.1:p.Ala398=
NM_005236.3:c.1983A>C MANE Select	NP_005227.1:p.Ala661=