Canonical Allele Identifier: CA7910523

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317816
• ClinVar RCV Id: RCV000351813 ; RCV001049483 ; RCV001292598 ; RCV002504085
• dbSNP Id: rs765454246
• ExAC: 16:14029517 A / T
• gnomAD v2: 16-14029517-A-T
• gnomAD v3: 16-13935660-A-T
• gnomAD v4: 16-13935660-A-T
• MyVariant Identifiers: chr16:g.14029517A>T (hg19) ; chr16:g.13935660A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935660A>T , CM000678.2:g.13935660A>T	GRCh38
NC_000016.9:g.14029517A>T , CM000678.1:g.14029517A>T	GRCh37
NC_000016.8:g.13937018A>T	NCBI36
NG_011442.1:g.20504A>T , LRG_463:g.20504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1806A>T
ENST00000682617.1:c.1866A>T	ENSP00000507912.1:p.Arg622Ser
ENST00000682826.1:c.*1042A>T	ENSP00000507274.1:n.*1042A>T
ENST00000682909.1:n.3768A>T
ENST00000683277.1:n.3373A>T
ENST00000683407.1:n.1736A>T
ENST00000683962.1:c.*1422A>T	ENSP00000506854.1:n.*1422A>T
ENST00000311895.8:c.1728A>T MANE Select	ENSP00000310520.7:p.Arg576Ser
ENST00000311895.7:c.1728A>T	ENSP00000310520.7:p.Arg576Ser
ENST00000389138.7:n.1005A>T
NM_005236.2:c.1728A>T , LRG_463t1:c.1728A>T	NP_005227.1:p.Arg576Ser
XM_011522424.1:c.1866A>T	XP_011520726.1:p.Arg622Ser
XM_011522425.1:c.1185A>T	XP_011520727.1:p.Arg395Ser
XM_011522426.1:c.939A>T	XP_011520728.1:p.Arg313Ser
XM_011522427.1:c.378A>T	XP_011520729.1:p.Arg126Ser
XR_932805.1:n.1887A>T
XM_011522424.3:c.1866A>T	XP_011520726.1:p.Arg622Ser
XM_017023043.2:c.939A>T	XP_016878532.1:p.Arg313Ser
NM_005236.3:c.1728A>T MANE Select	NP_005227.1:p.Arg576Ser