Canonical Allele Identifier: CA394811162

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032266669
• MyVariant Identifiers: chr16:g.14029280G>C (hg19) ; chr16:g.13935423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935423G>C , CM000678.2:g.13935423G>C	GRCh38
NC_000016.9:g.14029280G>C , CM000678.1:g.14029280G>C	GRCh37
NC_000016.8:g.13936781G>C	NCBI36
NG_011442.1:g.20267G>C , LRG_463:g.20267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1569G>C
ENST00000682617.1:c.1629G>C	ENSP00000507912.1:p.Met543Ile
ENST00000682826.1:c.*805G>C	ENSP00000507274.1:n.*805G>C
ENST00000682909.1:n.3531G>C
ENST00000683277.1:n.3136G>C
ENST00000683407.1:n.1499G>C
ENST00000683962.1:c.*1185G>C	ENSP00000506854.1:n.*1185G>C
ENST00000311895.8:c.1491G>C MANE Select	ENSP00000310520.7:p.Met497Ile
ENST00000311895.7:c.1491G>C	ENSP00000310520.7:p.Met497Ile
ENST00000389138.7:n.768G>C
NM_005236.2:c.1491G>C , LRG_463t1:c.1491G>C	NP_005227.1:p.Met497Ile
XM_011522424.1:c.1629G>C	XP_011520726.1:p.Met543Ile
XM_011522425.1:c.948G>C	XP_011520727.1:p.Met316Ile
XM_011522426.1:c.702G>C	XP_011520728.1:p.Met234Ile
XM_011522427.1:c.141G>C	XP_011520729.1:p.Met47Ile
XR_932805.1:n.1650G>C
XM_011522424.3:c.1629G>C	XP_011520726.1:p.Met543Ile
XM_017023043.2:c.702G>C	XP_016878532.1:p.Met234Ile
NM_005236.3:c.1491G>C MANE Select	NP_005227.1:p.Met497Ile