Canonical Allele Identifier: CA394821557

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947678-G-T
• MyVariant Identifiers: chr16:g.14041535G>T (hg19) ; chr16:g.13947678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947678G>T , CM000678.2:g.13947678G>T	GRCh38
NC_000016.9:g.14041535G>T , CM000678.1:g.14041535G>T	GRCh37
NC_000016.8:g.13949036G>T	NCBI36
NG_011442.1:g.32522G>T , LRG_463:g.32522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2220G>T	ENSP00000507912.1:p.Glu740Asp
ENST00000683962.1:c.*1776G>T	ENSP00000506854.1:n.*1776G>T
ENST00000311895.8:c.2082G>T MANE Select	ENSP00000310520.7:p.Glu694Asp
ENST00000311895.7:c.2082G>T	ENSP00000310520.7:p.Glu694Asp
ENST00000389138.7:n.1359G>T
ENST00000462862.1:c.395G>T	ENSP00000461322.1:n.395G>T
NM_005236.2:c.2082G>T , LRG_463t1:c.2082G>T	NP_005227.1:p.Glu694Asp
XM_011522424.1:c.2220G>T	XP_011520726.1:p.Glu740Asp
XM_011522425.1:c.1539G>T	XP_011520727.1:p.Glu513Asp
XM_011522426.1:c.1293G>T	XP_011520728.1:p.Glu431Asp
XM_011522427.1:c.732G>T	XP_011520729.1:p.Glu244Asp
XR_932805.1:n.2241G>T
XM_011522424.3:c.2220G>T	XP_011520726.1:p.Glu740Asp
XM_017023043.2:c.1293G>T	XP_016878532.1:p.Glu431Asp
NM_005236.3:c.2082G>T MANE Select	NP_005227.1:p.Glu694Asp