Canonical Allele Identifier: CA493444488

Gene: ERCC4

Linked Data

• dbSNP Id: rs1467434183
• gnomAD v2: 16-14042105-C-G
• MyVariant Identifiers: chr16:g.14042105C>G (hg19) ; chr16:g.13948248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948248C>G , CM000678.2:g.13948248C>G	GRCh38
NC_000016.9:g.14042105C>G , CM000678.1:g.14042105C>G	GRCh37
NC_000016.8:g.13949606C>G	NCBI36
NG_011442.1:g.33092C>G , LRG_463:g.33092C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2790C>G	ENSP00000507912.1:p.Leu930=
ENST00000683962.1:c.*2346C>G	ENSP00000506854.1:n.*2346C>G
ENST00000311895.8:c.2652C>G MANE Select	ENSP00000310520.7:p.Leu884=
ENST00000311895.7:c.2652C>G	ENSP00000310520.7:p.Leu884=
ENST00000389138.7:n.1929C>G
NM_005236.2:c.2652C>G , LRG_463t1:c.2652C>G	NP_005227.1:p.Leu884=
XM_011522424.1:c.2790C>G	XP_011520726.1:p.Leu930=
XM_011522425.1:c.2109C>G	XP_011520727.1:p.Leu703=
XM_011522426.1:c.1863C>G	XP_011520728.1:p.Leu621=
XM_011522427.1:c.1302C>G	XP_011520729.1:p.Leu434=
XR_932805.1:n.2811C>G
XM_011522424.3:c.2790C>G	XP_011520726.1:p.Leu930=
XM_017023043.2:c.1863C>G	XP_016878532.1:p.Leu621=
NM_005236.3:c.2652C>G MANE Select	NP_005227.1:p.Leu884=