Canonical Allele Identifier: CA7910752

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 3090113
• ClinVar RCV Id: RCV004380532
• dbSNP Id: rs754544912
• ExAC: 16:14041947 A / G
• gnomAD v2: 16-14041947-A-G
• gnomAD v3: 16-13948090-A-G
• gnomAD v4: 16-13948090-A-G
• MyVariant Identifiers: chr16:g.14041947A>G (hg19) ; chr16:g.13948090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948090A>G , CM000678.2:g.13948090A>G	GRCh38
NC_000016.9:g.14041947A>G , CM000678.1:g.14041947A>G	GRCh37
NC_000016.8:g.13949448A>G	NCBI36
NG_011442.1:g.32934A>G , LRG_463:g.32934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2632A>G	ENSP00000507912.1:p.Thr878Ala
ENST00000683962.1:c.*2188A>G	ENSP00000506854.1:n.*2188A>G
ENST00000311895.8:c.2494A>G MANE Select	ENSP00000310520.7:p.Thr832Ala
ENST00000311895.7:c.2494A>G	ENSP00000310520.7:p.Thr832Ala
ENST00000389138.7:n.1771A>G
NM_005236.2:c.2494A>G , LRG_463t1:c.2494A>G	NP_005227.1:p.Thr832Ala
XM_011522424.1:c.2632A>G	XP_011520726.1:p.Thr878Ala
XM_011522425.1:c.1951A>G	XP_011520727.1:p.Thr651Ala
XM_011522426.1:c.1705A>G	XP_011520728.1:p.Thr569Ala
XM_011522427.1:c.1144A>G	XP_011520729.1:p.Thr382Ala
XR_932805.1:n.2653A>G
XM_011522424.3:c.2632A>G	XP_011520726.1:p.Thr878Ala
XM_017023043.2:c.1705A>G	XP_016878532.1:p.Thr569Ala
NM_005236.3:c.2494A>G MANE Select	NP_005227.1:p.Thr832Ala