Canonical Allele Identifier: CA394823252

Gene: ERCC4

Linked Data

• dbSNP Id: rs1432394588
• gnomAD v2: 16-14041827-A-C
• gnomAD v3: 16-13947970-A-C
• gnomAD v4: 16-13947970-A-C
• MyVariant Identifiers: chr16:g.14041827A>C (hg19) ; chr16:g.13947970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947970A>C , CM000678.2:g.13947970A>C	GRCh38
NC_000016.9:g.14041827A>C , CM000678.1:g.14041827A>C	GRCh37
NC_000016.8:g.13949328A>C	NCBI36
NG_011442.1:g.32814A>C , LRG_463:g.32814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2512A>C	ENSP00000507912.1:p.Thr838Pro
ENST00000683962.1:c.*2068A>C	ENSP00000506854.1:n.*2068A>C
ENST00000311895.8:c.2374A>C MANE Select	ENSP00000310520.7:p.Thr792Pro
ENST00000311895.7:c.2374A>C	ENSP00000310520.7:p.Thr792Pro
ENST00000389138.7:n.1651A>C
ENST00000462862.1:c.687A>C	ENSP00000461322.1:n.687A>C
NM_005236.2:c.2374A>C , LRG_463t1:c.2374A>C	NP_005227.1:p.Thr792Pro
XM_011522424.1:c.2512A>C	XP_011520726.1:p.Thr838Pro
XM_011522425.1:c.1831A>C	XP_011520727.1:p.Thr611Pro
XM_011522426.1:c.1585A>C	XP_011520728.1:p.Thr529Pro
XM_011522427.1:c.1024A>C	XP_011520729.1:p.Thr342Pro
XR_932805.1:n.2533A>C
XM_011522424.3:c.2512A>C	XP_011520726.1:p.Thr838Pro
XM_017023043.2:c.1585A>C	XP_016878532.1:p.Thr529Pro
NM_005236.3:c.2374A>C MANE Select	NP_005227.1:p.Thr792Pro