Canonical Allele Identifier: CA394817318

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944731-C-T
• MyVariant Identifiers: chr16:g.14038588C>T (hg19) ; chr16:g.13944731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944731C>T , CM000678.2:g.13944731C>T	GRCh38
NC_000016.9:g.14038588C>T , CM000678.1:g.14038588C>T	GRCh37
NC_000016.8:g.13946089C>T	NCBI36
NG_011442.1:g.29575C>T , LRG_463:g.29575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2051C>T	ENSP00000507912.1:p.Ala684Val
ENST00000683962.1:c.*1607C>T	ENSP00000506854.1:n.*1607C>T
ENST00000311895.8:c.1913C>T MANE Select	ENSP00000310520.7:p.Ala638Val
ENST00000311895.7:c.1913C>T	ENSP00000310520.7:p.Ala638Val
ENST00000389138.7:n.1190C>T
ENST00000462862.1:c.226C>T	ENSP00000461322.1:n.226C>T
NM_005236.2:c.1913C>T , LRG_463t1:c.1913C>T	NP_005227.1:p.Ala638Val
XM_011522424.1:c.2051C>T	XP_011520726.1:p.Ala684Val
XM_011522425.1:c.1370C>T	XP_011520727.1:p.Ala457Val
XM_011522426.1:c.1124C>T	XP_011520728.1:p.Ala375Val
XM_011522427.1:c.563C>T	XP_011520729.1:p.Ala188Val
XR_932805.1:n.2072C>T
XM_011522424.3:c.2051C>T	XP_011520726.1:p.Ala684Val
XM_017023043.2:c.1124C>T	XP_016878532.1:p.Ala375Val
NM_005236.3:c.1913C>T MANE Select	NP_005227.1:p.Ala638Val