Canonical Allele Identifier: CA2631831614

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948641-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948641G>C , CM000678.2:g.13948641G>C	GRCh38
NC_000016.9:g.14042498G>C , CM000678.1:g.14042498G>C	GRCh37
NC_000016.8:g.13949999G>C	NCBI36
NG_011442.1:g.33485G>C , LRG_463:g.33485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*294G>C	ENSP00000507912.1:n.*294G>C
ENST00000683962.1:c.*2739G>C	ENSP00000506854.1:n.*2739G>C
ENST00000311895.8:c.*294G>C MANE Select	ENSP00000310520.7:n.*294G>C
ENST00000311895.7:c.*294G>C	ENSP00000310520.7:n.*294G>C
NM_005236.2:c.*294G>C , LRG_463t1:c.*294G>C	NP_005227.1:n.*294G>C
XM_011522424.1:c.*294G>C	XP_011520726.1:n.*294G>C
XM_011522425.1:c.*294G>C	XP_011520727.1:n.*294G>C
XM_011522426.1:c.*294G>C	XP_011520728.1:n.*294G>C
XM_011522427.1:c.*294G>C	XP_011520729.1:n.*294G>C
XR_932805.1:n.3074-72G>C
XM_011522424.3:c.*294G>C	XP_011520726.1:n.*294G>C
XM_017023043.2:c.*294G>C	XP_016878532.1:n.*294G>C
NM_005236.3:c.*294G>C MANE Select	NP_005227.1:n.*294G>C