Canonical Allele Identifier: CA394824216

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948106-C-T
• MyVariant Identifiers: chr16:g.14041963C>T (hg19) ; chr16:g.13948106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948106C>T , CM000678.2:g.13948106C>T	GRCh38
NC_000016.9:g.14041963C>T , CM000678.1:g.14041963C>T	GRCh37
NC_000016.8:g.13949464C>T	NCBI36
NG_011442.1:g.32950C>T , LRG_463:g.32950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2648C>T	ENSP00000507912.1:p.Thr883Ile
ENST00000683962.1:c.*2204C>T	ENSP00000506854.1:n.*2204C>T
ENST00000311895.8:c.2510C>T MANE Select	ENSP00000310520.7:p.Thr837Ile
ENST00000311895.7:c.2510C>T	ENSP00000310520.7:p.Thr837Ile
ENST00000389138.7:n.1787C>T
NM_005236.2:c.2510C>T , LRG_463t1:c.2510C>T	NP_005227.1:p.Thr837Ile
XM_011522424.1:c.2648C>T	XP_011520726.1:p.Thr883Ile
XM_011522425.1:c.1967C>T	XP_011520727.1:p.Thr656Ile
XM_011522426.1:c.1721C>T	XP_011520728.1:p.Thr574Ile
XM_011522427.1:c.1160C>T	XP_011520729.1:p.Thr387Ile
XR_932805.1:n.2669C>T
XM_011522424.3:c.2648C>T	XP_011520726.1:p.Thr883Ile
XM_017023043.2:c.1721C>T	XP_016878532.1:p.Thr574Ile
NM_005236.3:c.2510C>T MANE Select	NP_005227.1:p.Thr837Ile