Canonical Allele Identifier: CA394824810

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042113T>G (hg19) ; chr16:g.13948256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948256T>G , CM000678.2:g.13948256T>G	GRCh38
NC_000016.9:g.14042113T>G , CM000678.1:g.14042113T>G	GRCh37
NC_000016.8:g.13949614T>G	NCBI36
NG_011442.1:g.33100T>G , LRG_463:g.33100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2798T>G	ENSP00000507912.1:p.Ile933Ser
ENST00000683962.1:c.*2354T>G	ENSP00000506854.1:n.*2354T>G
ENST00000311895.8:c.2660T>G MANE Select	ENSP00000310520.7:p.Ile887Ser
ENST00000311895.7:c.2660T>G	ENSP00000310520.7:p.Ile887Ser
ENST00000389138.7:n.1937T>G
NM_005236.2:c.2660T>G , LRG_463t1:c.2660T>G	NP_005227.1:p.Ile887Ser
XM_011522424.1:c.2798T>G	XP_011520726.1:p.Ile933Ser
XM_011522425.1:c.2117T>G	XP_011520727.1:p.Ile706Ser
XM_011522426.1:c.1871T>G	XP_011520728.1:p.Ile624Ser
XM_011522427.1:c.1310T>G	XP_011520729.1:p.Ile437Ser
XR_932805.1:n.2819T>G
XM_011522424.3:c.2798T>G	XP_011520726.1:p.Ile933Ser
XM_017023043.2:c.1871T>G	XP_016878532.1:p.Ile624Ser
NM_005236.3:c.2660T>G MANE Select	NP_005227.1:p.Ile887Ser