Canonical Allele Identifier: CA394818114

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038669T>C (hg19) ; chr16:g.13944812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944812T>C , CM000678.2:g.13944812T>C	GRCh38
NC_000016.9:g.14038669T>C , CM000678.1:g.14038669T>C	GRCh37
NC_000016.8:g.13946170T>C	NCBI36
NG_011442.1:g.29656T>C , LRG_463:g.29656T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2132T>C	ENSP00000507912.1:p.Val711Ala
ENST00000683962.1:c.*1688T>C	ENSP00000506854.1:n.*1688T>C
ENST00000311895.8:c.1994T>C MANE Select	ENSP00000310520.7:p.Val665Ala
ENST00000311895.7:c.1994T>C	ENSP00000310520.7:p.Val665Ala
ENST00000389138.7:n.1271T>C
ENST00000462862.1:c.307T>C	ENSP00000461322.1:n.307T>C
NM_005236.2:c.1994T>C , LRG_463t1:c.1994T>C	NP_005227.1:p.Val665Ala
XM_011522424.1:c.2132T>C	XP_011520726.1:p.Val711Ala
XM_011522425.1:c.1451T>C	XP_011520727.1:p.Val484Ala
XM_011522426.1:c.1205T>C	XP_011520728.1:p.Val402Ala
XM_011522427.1:c.644T>C	XP_011520729.1:p.Val215Ala
XR_932805.1:n.2153T>C
XM_011522424.3:c.2132T>C	XP_011520726.1:p.Val711Ala
XM_017023043.2:c.1205T>C	XP_016878532.1:p.Val402Ala
NM_005236.3:c.1994T>C MANE Select	NP_005227.1:p.Val665Ala