Canonical Allele Identifier: CA278485413

Gene: ERCC4

Linked Data

• dbSNP Id: rs922325785
• gnomAD v3: 16-13947855-G-C
• gnomAD v4: 16-13947855-G-C
• MyVariant Identifiers: chr16:g.14041712G>C (hg19) ; chr16:g.13947855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947855G>C , CM000678.2:g.13947855G>C	GRCh38
NC_000016.9:g.14041712G>C , CM000678.1:g.14041712G>C	GRCh37
NC_000016.8:g.13949213G>C	NCBI36
NG_011442.1:g.32699G>C , LRG_463:g.32699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2397G>C	ENSP00000507912.1:p.Lys799Asn
ENST00000683962.1:c.*1953G>C	ENSP00000506854.1:n.*1953G>C
ENST00000311895.8:c.2259G>C MANE Select	ENSP00000310520.7:p.Lys753Asn
ENST00000311895.7:c.2259G>C	ENSP00000310520.7:p.Lys753Asn
ENST00000389138.7:n.1536G>C
ENST00000462862.1:c.572G>C	ENSP00000461322.1:n.572G>C
NM_005236.2:c.2259G>C , LRG_463t1:c.2259G>C	NP_005227.1:p.Lys753Asn
XM_011522424.1:c.2397G>C	XP_011520726.1:p.Lys799Asn
XM_011522425.1:c.1716G>C	XP_011520727.1:p.Lys572Asn
XM_011522426.1:c.1470G>C	XP_011520728.1:p.Lys490Asn
XM_011522427.1:c.909G>C	XP_011520729.1:p.Lys303Asn
XR_932805.1:n.2418G>C
XM_011522424.3:c.2397G>C	XP_011520726.1:p.Lys799Asn
XM_017023043.2:c.1470G>C	XP_016878532.1:p.Lys490Asn
NM_005236.3:c.2259G>C MANE Select	NP_005227.1:p.Lys753Asn