Canonical Allele Identifier: CA394812241

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935590-T-C
• MyVariant Identifiers: chr16:g.14029447T>C (hg19) ; chr16:g.13935590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935590T>C , CM000678.2:g.13935590T>C	GRCh38
NC_000016.9:g.14029447T>C , CM000678.1:g.14029447T>C	GRCh37
NC_000016.8:g.13936948T>C	NCBI36
NG_011442.1:g.20434T>C , LRG_463:g.20434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1736T>C
ENST00000682617.1:c.1796T>C	ENSP00000507912.1:p.Ile599Thr
ENST00000682826.1:c.*972T>C	ENSP00000507274.1:n.*972T>C
ENST00000682909.1:n.3698T>C
ENST00000683277.1:n.3303T>C
ENST00000683407.1:n.1666T>C
ENST00000683962.1:c.*1352T>C	ENSP00000506854.1:n.*1352T>C
ENST00000311895.8:c.1658T>C MANE Select	ENSP00000310520.7:p.Ile553Thr
ENST00000311895.7:c.1658T>C	ENSP00000310520.7:p.Ile553Thr
ENST00000389138.7:n.935T>C
NM_005236.2:c.1658T>C , LRG_463t1:c.1658T>C	NP_005227.1:p.Ile553Thr
XM_011522424.1:c.1796T>C	XP_011520726.1:p.Ile599Thr
XM_011522425.1:c.1115T>C	XP_011520727.1:p.Ile372Thr
XM_011522426.1:c.869T>C	XP_011520728.1:p.Ile290Thr
XM_011522427.1:c.308T>C	XP_011520729.1:p.Ile103Thr
XR_932805.1:n.1817T>C
XM_011522424.3:c.1796T>C	XP_011520726.1:p.Ile599Thr
XM_017023043.2:c.869T>C	XP_016878532.1:p.Ile290Thr
NM_005236.3:c.1658T>C MANE Select	NP_005227.1:p.Ile553Thr