Canonical Allele Identifier: CA394824386

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621049
• COSMIC: COSM3506080
• MyVariant Identifiers: chr16:g.14041989C>T (hg19) ; chr16:g.13948132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948132C>T , CM000678.2:g.13948132C>T	GRCh38
NC_000016.9:g.14041989C>T , CM000678.1:g.14041989C>T	GRCh37
NC_000016.8:g.13949490C>T	NCBI36
NG_011442.1:g.32976C>T , LRG_463:g.32976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2674C>T	ENSP00000507912.1:p.Pro892Ser
ENST00000683962.1:c.*2230C>T	ENSP00000506854.1:n.*2230C>T
ENST00000311895.8:c.2536C>T MANE Select	ENSP00000310520.7:p.Pro846Ser
ENST00000311895.7:c.2536C>T	ENSP00000310520.7:p.Pro846Ser
ENST00000389138.7:n.1813C>T
NM_005236.2:c.2536C>T , LRG_463t1:c.2536C>T	NP_005227.1:p.Pro846Ser
XM_011522424.1:c.2674C>T	XP_011520726.1:p.Pro892Ser
XM_011522425.1:c.1993C>T	XP_011520727.1:p.Pro665Ser
XM_011522426.1:c.1747C>T	XP_011520728.1:p.Pro583Ser
XM_011522427.1:c.1186C>T	XP_011520729.1:p.Pro396Ser
XR_932805.1:n.2695C>T
XM_011522424.3:c.2674C>T	XP_011520726.1:p.Pro892Ser
XM_017023043.2:c.1747C>T	XP_016878532.1:p.Pro583Ser
NM_005236.3:c.2536C>T MANE Select	NP_005227.1:p.Pro846Ser