Canonical Allele Identifier: CA394824712

Gene: ERCC4

Linked Data

• dbSNP Id: rs754131812
• gnomAD v4: 16-13948237-C-A
• MyVariant Identifiers: chr16:g.14042094C>A (hg19) ; chr16:g.13948237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948237C>A , CM000678.2:g.13948237C>A	GRCh38
NC_000016.9:g.14042094C>A , CM000678.1:g.14042094C>A	GRCh37
NC_000016.8:g.13949595C>A	NCBI36
NG_011442.1:g.33081C>A , LRG_463:g.33081C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2779C>A	ENSP00000507912.1:p.Gln927Lys
ENST00000683962.1:c.*2335C>A	ENSP00000506854.1:n.*2335C>A
ENST00000311895.8:c.2641C>A MANE Select	ENSP00000310520.7:p.Gln881Lys
ENST00000311895.7:c.2641C>A	ENSP00000310520.7:p.Gln881Lys
ENST00000389138.7:n.1918C>A
NM_005236.2:c.2641C>A , LRG_463t1:c.2641C>A	NP_005227.1:p.Gln881Lys
XM_011522424.1:c.2779C>A	XP_011520726.1:p.Gln927Lys
XM_011522425.1:c.2098C>A	XP_011520727.1:p.Gln700Lys
XM_011522426.1:c.1852C>A	XP_011520728.1:p.Gln618Lys
XM_011522427.1:c.1291C>A	XP_011520729.1:p.Gln431Lys
XR_932805.1:n.2800C>A
XM_011522424.3:c.2779C>A	XP_011520726.1:p.Gln927Lys
XM_017023043.2:c.1852C>A	XP_016878532.1:p.Gln618Lys
NM_005236.3:c.2641C>A MANE Select	NP_005227.1:p.Gln881Lys