Canonical Allele Identifier: CA394824441

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042007T>G (hg19) ; chr16:g.13948150T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948150T>G , CM000678.2:g.13948150T>G	GRCh38
NC_000016.9:g.14042007T>G , CM000678.1:g.14042007T>G	GRCh37
NC_000016.8:g.13949508T>G	NCBI36
NG_011442.1:g.32994T>G , LRG_463:g.32994T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2692T>G	ENSP00000507912.1:p.Leu898Val
ENST00000683962.1:c.*2248T>G	ENSP00000506854.1:n.*2248T>G
ENST00000311895.8:c.2554T>G MANE Select	ENSP00000310520.7:p.Leu852Val
ENST00000311895.7:c.2554T>G	ENSP00000310520.7:p.Leu852Val
ENST00000389138.7:n.1831T>G
NM_005236.2:c.2554T>G , LRG_463t1:c.2554T>G	NP_005227.1:p.Leu852Val
XM_011522424.1:c.2692T>G	XP_011520726.1:p.Leu898Val
XM_011522425.1:c.2011T>G	XP_011520727.1:p.Leu671Val
XM_011522426.1:c.1765T>G	XP_011520728.1:p.Leu589Val
XM_011522427.1:c.1204T>G	XP_011520729.1:p.Leu402Val
XR_932805.1:n.2713T>G
XM_011522424.3:c.2692T>G	XP_011520726.1:p.Leu898Val
XM_017023043.2:c.1765T>G	XP_016878532.1:p.Leu589Val
NM_005236.3:c.2554T>G MANE Select	NP_005227.1:p.Leu852Val