Canonical Allele Identifier: CA394824315

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041980A>C (hg19) ; chr16:g.13948123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948123A>C , CM000678.2:g.13948123A>C	GRCh38
NC_000016.9:g.14041980A>C , CM000678.1:g.14041980A>C	GRCh37
NC_000016.8:g.13949481A>C	NCBI36
NG_011442.1:g.32967A>C , LRG_463:g.32967A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2665A>C	ENSP00000507912.1:p.Lys889Gln
ENST00000683962.1:c.*2221A>C	ENSP00000506854.1:n.*2221A>C
ENST00000311895.8:c.2527A>C MANE Select	ENSP00000310520.7:p.Lys843Gln
ENST00000311895.7:c.2527A>C	ENSP00000310520.7:p.Lys843Gln
ENST00000389138.7:n.1804A>C
NM_005236.2:c.2527A>C , LRG_463t1:c.2527A>C	NP_005227.1:p.Lys843Gln
XM_011522424.1:c.2665A>C	XP_011520726.1:p.Lys889Gln
XM_011522425.1:c.1984A>C	XP_011520727.1:p.Lys662Gln
XM_011522426.1:c.1738A>C	XP_011520728.1:p.Lys580Gln
XM_011522427.1:c.1177A>C	XP_011520729.1:p.Lys393Gln
XR_932805.1:n.2686A>C
XM_011522424.3:c.2665A>C	XP_011520726.1:p.Lys889Gln
XM_017023043.2:c.1738A>C	XP_016878532.1:p.Lys580Gln
NM_005236.3:c.2527A>C MANE Select	NP_005227.1:p.Lys843Gln