Canonical Allele Identifier: CA394824483

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042025G>T (hg19) ; chr16:g.13948168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948168G>T , CM000678.2:g.13948168G>T	GRCh38
NC_000016.9:g.14042025G>T , CM000678.1:g.14042025G>T	GRCh37
NC_000016.8:g.13949526G>T	NCBI36
NG_011442.1:g.33012G>T , LRG_463:g.33012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2710G>T	ENSP00000507912.1:p.Val904Leu
ENST00000683962.1:c.*2266G>T	ENSP00000506854.1:n.*2266G>T
ENST00000311895.8:c.2572G>T MANE Select	ENSP00000310520.7:p.Val858Leu
ENST00000311895.7:c.2572G>T	ENSP00000310520.7:p.Val858Leu
ENST00000389138.7:n.1849G>T
NM_005236.2:c.2572G>T , LRG_463t1:c.2572G>T	NP_005227.1:p.Val858Leu
XM_011522424.1:c.2710G>T	XP_011520726.1:p.Val904Leu
XM_011522425.1:c.2029G>T	XP_011520727.1:p.Val677Leu
XM_011522426.1:c.1783G>T	XP_011520728.1:p.Val595Leu
XM_011522427.1:c.1222G>T	XP_011520729.1:p.Val408Leu
XR_932805.1:n.2731G>T
XM_011522424.3:c.2710G>T	XP_011520726.1:p.Val904Leu
XM_017023043.2:c.1783G>T	XP_016878532.1:p.Val595Leu
NM_005236.3:c.2572G>T MANE Select	NP_005227.1:p.Val858Leu