Canonical Allele Identifier: CA394812531

Gene: ERCC4

Linked Data

• dbSNP Id: rs936672091
• gnomAD v4: 16-13935663-C-G
• MyVariant Identifiers: chr16:g.14029520C>G (hg19) ; chr16:g.13935663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935663C>G , CM000678.2:g.13935663C>G	GRCh38
NC_000016.9:g.14029520C>G , CM000678.1:g.14029520C>G	GRCh37
NC_000016.8:g.13937021C>G	NCBI36
NG_011442.1:g.20507C>G , LRG_463:g.20507C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1809C>G
ENST00000682617.1:c.1869C>G	ENSP00000507912.1:p.Tyr623Ter
ENST00000682826.1:c.*1045C>G	ENSP00000507274.1:n.*1045C>G
ENST00000682909.1:n.3771C>G
ENST00000683277.1:n.3376C>G
ENST00000683407.1:n.1739C>G
ENST00000683962.1:c.*1425C>G	ENSP00000506854.1:n.*1425C>G
ENST00000311895.8:c.1731C>G MANE Select	ENSP00000310520.7:p.Tyr577Ter
ENST00000311895.7:c.1731C>G	ENSP00000310520.7:p.Tyr577Ter
ENST00000389138.7:n.1008C>G
NM_005236.2:c.1731C>G , LRG_463t1:c.1731C>G	NP_005227.1:p.Tyr577Ter
XM_011522424.1:c.1869C>G	XP_011520726.1:p.Tyr623Ter
XM_011522425.1:c.1188C>G	XP_011520727.1:p.Tyr396Ter
XM_011522426.1:c.942C>G	XP_011520728.1:p.Tyr314Ter
XM_011522427.1:c.381C>G	XP_011520729.1:p.Tyr127Ter
XR_932805.1:n.1890C>G
XM_011522424.3:c.1869C>G	XP_011520726.1:p.Tyr623Ter
XM_017023043.2:c.942C>G	XP_016878532.1:p.Tyr314Ter
NM_005236.3:c.1731C>G MANE Select	NP_005227.1:p.Tyr577Ter