Canonical Allele Identifier: CA394824775

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948249-A-C
• MyVariant Identifiers: chr16:g.14042106A>C (hg19) ; chr16:g.13948249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948249A>C , CM000678.2:g.13948249A>C	GRCh38
NC_000016.9:g.14042106A>C , CM000678.1:g.14042106A>C	GRCh37
NC_000016.8:g.13949607A>C	NCBI36
NG_011442.1:g.33093A>C , LRG_463:g.33093A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2791A>C	ENSP00000507912.1:p.Thr931Pro
ENST00000683962.1:c.*2347A>C	ENSP00000506854.1:n.*2347A>C
ENST00000311895.8:c.2653A>C MANE Select	ENSP00000310520.7:p.Thr885Pro
ENST00000311895.7:c.2653A>C	ENSP00000310520.7:p.Thr885Pro
ENST00000389138.7:n.1930A>C
NM_005236.2:c.2653A>C , LRG_463t1:c.2653A>C	NP_005227.1:p.Thr885Pro
XM_011522424.1:c.2791A>C	XP_011520726.1:p.Thr931Pro
XM_011522425.1:c.2110A>C	XP_011520727.1:p.Thr704Pro
XM_011522426.1:c.1864A>C	XP_011520728.1:p.Thr622Pro
XM_011522427.1:c.1303A>C	XP_011520729.1:p.Thr435Pro
XR_932805.1:n.2812A>C
XM_011522424.3:c.2791A>C	XP_011520726.1:p.Thr931Pro
XM_017023043.2:c.1864A>C	XP_016878532.1:p.Thr622Pro
NM_005236.3:c.2653A>C MANE Select	NP_005227.1:p.Thr885Pro