Canonical Allele Identifier: CA394812124

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029433A>C (hg19) ; chr16:g.13935576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935576A>C , CM000678.2:g.13935576A>C	GRCh38
NC_000016.9:g.14029433A>C , CM000678.1:g.14029433A>C	GRCh37
NC_000016.8:g.13936934A>C	NCBI36
NG_011442.1:g.20420A>C , LRG_463:g.20420A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1722A>C
ENST00000682617.1:c.1782A>C	ENSP00000507912.1:p.Lys594Asn
ENST00000682826.1:c.*958A>C	ENSP00000507274.1:n.*958A>C
ENST00000682909.1:n.3684A>C
ENST00000683277.1:n.3289A>C
ENST00000683407.1:n.1652A>C
ENST00000683962.1:c.*1338A>C	ENSP00000506854.1:n.*1338A>C
ENST00000311895.8:c.1644A>C MANE Select	ENSP00000310520.7:p.Lys548Asn
ENST00000311895.7:c.1644A>C	ENSP00000310520.7:p.Lys548Asn
ENST00000389138.7:n.921A>C
NM_005236.2:c.1644A>C , LRG_463t1:c.1644A>C	NP_005227.1:p.Lys548Asn
XM_011522424.1:c.1782A>C	XP_011520726.1:p.Lys594Asn
XM_011522425.1:c.1101A>C	XP_011520727.1:p.Lys367Asn
XM_011522426.1:c.855A>C	XP_011520728.1:p.Lys285Asn
XM_011522427.1:c.294A>C	XP_011520729.1:p.Lys98Asn
XR_932805.1:n.1803A>C
XM_011522424.3:c.1782A>C	XP_011520726.1:p.Lys594Asn
XM_017023043.2:c.855A>C	XP_016878532.1:p.Lys285Asn
NM_005236.3:c.1644A>C MANE Select	NP_005227.1:p.Lys548Asn