Canonical Allele Identifier: CA394812532

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935664-G-C
• MyVariant Identifiers: chr16:g.14029521G>C (hg19) ; chr16:g.13935664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935664G>C , CM000678.2:g.13935664G>C	GRCh38
NC_000016.9:g.14029521G>C , CM000678.1:g.14029521G>C	GRCh37
NC_000016.8:g.13937022G>C	NCBI36
NG_011442.1:g.20508G>C , LRG_463:g.20508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1810G>C
ENST00000682617.1:c.1870G>C	ENSP00000507912.1:p.Val624Leu
ENST00000682826.1:c.*1046G>C	ENSP00000507274.1:n.*1046G>C
ENST00000682909.1:n.3772G>C
ENST00000683277.1:n.3377G>C
ENST00000683407.1:n.1740G>C
ENST00000683962.1:c.*1426G>C	ENSP00000506854.1:n.*1426G>C
ENST00000311895.8:c.1732G>C MANE Select	ENSP00000310520.7:p.Val578Leu
ENST00000311895.7:c.1732G>C	ENSP00000310520.7:p.Val578Leu
ENST00000389138.7:n.1009G>C
NM_005236.2:c.1732G>C , LRG_463t1:c.1732G>C	NP_005227.1:p.Val578Leu
XM_011522424.1:c.1870G>C	XP_011520726.1:p.Val624Leu
XM_011522425.1:c.1189G>C	XP_011520727.1:p.Val397Leu
XM_011522426.1:c.943G>C	XP_011520728.1:p.Val315Leu
XM_011522427.1:c.382G>C	XP_011520729.1:p.Val128Leu
XR_932805.1:n.1891G>C
XM_011522424.3:c.1870G>C	XP_011520726.1:p.Val624Leu
XM_017023043.2:c.943G>C	XP_016878532.1:p.Val315Leu
NM_005236.3:c.1732G>C MANE Select	NP_005227.1:p.Val578Leu