Canonical Allele Identifier: CA7910482

Gene: ERCC4

Linked Data

• dbSNP Id: rs371114175
• ExAC: 16:14029290 C / G
• gnomAD v2: 16-14029290-C-G
• MyVariant Identifiers: chr16:g.14029290C>G (hg19) ; chr16:g.13935433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935433C>G , CM000678.2:g.13935433C>G	GRCh38
NC_000016.9:g.14029290C>G , CM000678.1:g.14029290C>G	GRCh37
NC_000016.8:g.13936791C>G	NCBI36
NG_011442.1:g.20277C>G , LRG_463:g.20277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1579C>G
ENST00000682617.1:c.1639C>G	ENSP00000507912.1:p.Pro547Ala
ENST00000682826.1:c.*815C>G	ENSP00000507274.1:n.*815C>G
ENST00000682909.1:n.3541C>G
ENST00000683277.1:n.3146C>G
ENST00000683407.1:n.1509C>G
ENST00000683962.1:c.*1195C>G	ENSP00000506854.1:n.*1195C>G
ENST00000311895.8:c.1501C>G MANE Select	ENSP00000310520.7:p.Pro501Ala
ENST00000311895.7:c.1501C>G	ENSP00000310520.7:p.Pro501Ala
ENST00000389138.7:n.778C>G
NM_005236.2:c.1501C>G , LRG_463t1:c.1501C>G	NP_005227.1:p.Pro501Ala
XM_011522424.1:c.1639C>G	XP_011520726.1:p.Pro547Ala
XM_011522425.1:c.958C>G	XP_011520727.1:p.Pro320Ala
XM_011522426.1:c.712C>G	XP_011520728.1:p.Pro238Ala
XM_011522427.1:c.151C>G	XP_011520729.1:p.Pro51Ala
XR_932805.1:n.1660C>G
XM_011522424.3:c.1639C>G	XP_011520726.1:p.Pro547Ala
XM_017023043.2:c.712C>G	XP_016878532.1:p.Pro238Ala
NM_005236.3:c.1501C>G MANE Select	NP_005227.1:p.Pro501Ala