Canonical Allele Identifier: CA278486408

Gene: ERCC4

Linked Data

• dbSNP Id: rs908544305
• gnomAD v3: 16-13948628-G-T
• gnomAD v4: 16-13948628-G-T
• MyVariant Identifiers: chr16:g.14042485G>T (hg19) ; chr16:g.13948628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948628G>T , CM000678.2:g.13948628G>T	GRCh38
NC_000016.9:g.14042485G>T , CM000678.1:g.14042485G>T	GRCh37
NC_000016.8:g.13949986G>T	NCBI36
NG_011442.1:g.33472G>T , LRG_463:g.33472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*281G>T	ENSP00000507912.1:n.*281G>T
ENST00000683962.1:c.*2726G>T	ENSP00000506854.1:n.*2726G>T
ENST00000311895.8:c.*281G>T MANE Select	ENSP00000310520.7:n.*281G>T
ENST00000311895.7:c.*281G>T	ENSP00000310520.7:n.*281G>T
NM_005236.2:c.*281G>T , LRG_463t1:c.*281G>T	NP_005227.1:n.*281G>T
XM_011522424.1:c.*281G>T	XP_011520726.1:n.*281G>T
XM_011522425.1:c.*281G>T	XP_011520727.1:n.*281G>T
XM_011522426.1:c.*281G>T	XP_011520728.1:n.*281G>T
XM_011522427.1:c.*281G>T	XP_011520729.1:n.*281G>T
XR_932805.1:n.3074-85G>T
XM_011522424.3:c.*281G>T	XP_011520726.1:n.*281G>T
XM_017023043.2:c.*281G>T	XP_016878532.1:n.*281G>T
NM_005236.3:c.*281G>T MANE Select	NP_005227.1:n.*281G>T