Canonical Allele Identifier: CA7910506

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 946529
• ClinVar RCV Id: RCV001217410
• dbSNP Id: rs139197943
• ExAC: 16:14029437 C / T
• gnomAD v2: 16-14029437-C-T
• gnomAD v3: 16-13935580-C-T
• gnomAD v4: 16-13935580-C-T
• MyVariant Identifiers: chr16:g.14029437C>T (hg19) ; chr16:g.13935580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935580C>T , CM000678.2:g.13935580C>T	GRCh38
NC_000016.9:g.14029437C>T , CM000678.1:g.14029437C>T	GRCh37
NC_000016.8:g.13936938C>T	NCBI36
NG_011442.1:g.20424C>T , LRG_463:g.20424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1726C>T
ENST00000682617.1:c.1786C>T	ENSP00000507912.1:p.Pro596Ser
ENST00000682826.1:c.*962C>T	ENSP00000507274.1:n.*962C>T
ENST00000682909.1:n.3688C>T
ENST00000683277.1:n.3293C>T
ENST00000683407.1:n.1656C>T
ENST00000683962.1:c.*1342C>T	ENSP00000506854.1:n.*1342C>T
ENST00000311895.8:c.1648C>T MANE Select	ENSP00000310520.7:p.Pro550Ser
ENST00000311895.7:c.1648C>T	ENSP00000310520.7:p.Pro550Ser
ENST00000389138.7:n.925C>T
NM_005236.2:c.1648C>T , LRG_463t1:c.1648C>T	NP_005227.1:p.Pro550Ser
XM_011522424.1:c.1786C>T	XP_011520726.1:p.Pro596Ser
XM_011522425.1:c.1105C>T	XP_011520727.1:p.Pro369Ser
XM_011522426.1:c.859C>T	XP_011520728.1:p.Pro287Ser
XM_011522427.1:c.298C>T	XP_011520729.1:p.Pro100Ser
XR_932805.1:n.1807C>T
XM_011522424.3:c.1786C>T	XP_011520726.1:p.Pro596Ser
XM_017023043.2:c.859C>T	XP_016878532.1:p.Pro287Ser
NM_005236.3:c.1648C>T MANE Select	NP_005227.1:p.Pro550Ser