Canonical Allele Identifier: CA394812580

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029534A>C (hg19) ; chr16:g.13935677A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935677A>C , CM000678.2:g.13935677A>C	GRCh38
NC_000016.9:g.14029534A>C , CM000678.1:g.14029534A>C	GRCh37
NC_000016.8:g.13937035A>C	NCBI36
NG_011442.1:g.20521A>C , LRG_463:g.20521A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1823A>C
ENST00000682617.1:c.1883A>C	ENSP00000507912.1:p.Asp628Ala
ENST00000682826.1:c.*1059A>C	ENSP00000507274.1:n.*1059A>C
ENST00000682909.1:n.3785A>C
ENST00000683277.1:n.3390A>C
ENST00000683407.1:n.1753A>C
ENST00000683962.1:c.*1439A>C	ENSP00000506854.1:n.*1439A>C
ENST00000311895.8:c.1745A>C MANE Select	ENSP00000310520.7:p.Asp582Ala
ENST00000311895.7:c.1745A>C	ENSP00000310520.7:p.Asp582Ala
ENST00000389138.7:n.1022A>C
NM_005236.2:c.1745A>C , LRG_463t1:c.1745A>C	NP_005227.1:p.Asp582Ala
XM_011522424.1:c.1883A>C	XP_011520726.1:p.Asp628Ala
XM_011522425.1:c.1202A>C	XP_011520727.1:p.Asp401Ala
XM_011522426.1:c.956A>C	XP_011520728.1:p.Asp319Ala
XM_011522427.1:c.395A>C	XP_011520729.1:p.Asp132Ala
XR_932805.1:n.1904A>C
XM_011522424.3:c.1883A>C	XP_011520726.1:p.Asp628Ala
XM_017023043.2:c.956A>C	XP_016878532.1:p.Asp319Ala
NM_005236.3:c.1745A>C MANE Select	NP_005227.1:p.Asp582Ala