Canonical Allele Identifier: CA7910664

Gene: ERCC4

Linked Data

• dbSNP Id: rs751928876
• ExAC: 16:14041510 T / C
• gnomAD v2: 16-14041510-T-C
• gnomAD v4: 16-13947653-T-C
• MyVariant Identifiers: chr16:g.14041510T>C (hg19) ; chr16:g.13947653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947653T>C , CM000678.2:g.13947653T>C	GRCh38
NC_000016.9:g.14041510T>C , CM000678.1:g.14041510T>C	GRCh37
NC_000016.8:g.13949011T>C	NCBI36
NG_011442.1:g.32497T>C , LRG_463:g.32497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2195T>C	ENSP00000507912.1:p.Val732Ala
ENST00000683962.1:c.*1751T>C	ENSP00000506854.1:n.*1751T>C
ENST00000311895.8:c.2057T>C MANE Select	ENSP00000310520.7:p.Val686Ala
ENST00000311895.7:c.2057T>C	ENSP00000310520.7:p.Val686Ala
ENST00000389138.7:n.1334T>C
ENST00000462862.1:c.370T>C	ENSP00000461322.1:n.370T>C
NM_005236.2:c.2057T>C , LRG_463t1:c.2057T>C	NP_005227.1:p.Val686Ala
XM_011522424.1:c.2195T>C	XP_011520726.1:p.Val732Ala
XM_011522425.1:c.1514T>C	XP_011520727.1:p.Val505Ala
XM_011522426.1:c.1268T>C	XP_011520728.1:p.Val423Ala
XM_011522427.1:c.707T>C	XP_011520729.1:p.Val236Ala
XR_932805.1:n.2216T>C
XM_011522424.3:c.2195T>C	XP_011520726.1:p.Val732Ala
XM_017023043.2:c.1268T>C	XP_016878532.1:p.Val423Ala
NM_005236.3:c.2057T>C MANE Select	NP_005227.1:p.Val686Ala