Canonical Allele Identifier: CA7910533

Gene: ERCC4

Linked Data

• dbSNP Id: rs763006163
• ExAC: 16:14029557 C / T
• gnomAD v2: 16-14029557-C-T
• gnomAD v4: 16-13935700-C-T
• COSMIC: COSM3887924
• MyVariant Identifiers: chr16:g.14029557C>T (hg19) ; chr16:g.13935700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935700C>T , CM000678.2:g.13935700C>T	GRCh38
NC_000016.9:g.14029557C>T , CM000678.1:g.14029557C>T	GRCh37
NC_000016.8:g.13937058C>T	NCBI36
NG_011442.1:g.20544C>T , LRG_463:g.20544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1846C>T
ENST00000682617.1:c.1906C>T	ENSP00000507912.1:p.Gln636Ter
ENST00000682826.1:c.*1082C>T	ENSP00000507274.1:n.*1082C>T
ENST00000682909.1:n.3808C>T
ENST00000683277.1:n.3413C>T
ENST00000683407.1:n.1776C>T
ENST00000683962.1:c.*1462C>T	ENSP00000506854.1:n.*1462C>T
ENST00000311895.8:c.1768C>T MANE Select	ENSP00000310520.7:p.Gln590Ter
ENST00000311895.7:c.1768C>T	ENSP00000310520.7:p.Gln590Ter
ENST00000389138.7:n.1045C>T
NM_005236.2:c.1768C>T , LRG_463t1:c.1768C>T	NP_005227.1:p.Gln590Ter
XM_011522424.1:c.1906C>T	XP_011520726.1:p.Gln636Ter
XM_011522425.1:c.1225C>T	XP_011520727.1:p.Gln409Ter
XM_011522426.1:c.979C>T	XP_011520728.1:p.Gln327Ter
XM_011522427.1:c.418C>T	XP_011520729.1:p.Gln140Ter
XR_932805.1:n.1927C>T
XM_011522424.3:c.1906C>T	XP_011520726.1:p.Gln636Ter
XM_017023043.2:c.979C>T	XP_016878532.1:p.Gln327Ter
NM_005236.3:c.1768C>T MANE Select	NP_005227.1:p.Gln590Ter