Canonical Allele Identifier: CA7910759

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 700435
• ClinVar RCV Id: RCV002064590 ; RCV002258014 ; RCV003424400
• dbSNP Id: rs200715555
• ExAC: 16:14041970 C / T
• gnomAD v2: 16-14041970-C-T
• gnomAD v3: 16-13948113-C-T
• gnomAD v4: 16-13948113-C-T
• MyVariant Identifiers: chr16:g.14041970C>T (hg19) ; chr16:g.13948113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948113C>T , CM000678.2:g.13948113C>T	GRCh38
NC_000016.9:g.14041970C>T , CM000678.1:g.14041970C>T	GRCh37
NC_000016.8:g.13949471C>T	NCBI36
NG_011442.1:g.32957C>T , LRG_463:g.32957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2655C>T	ENSP00000507912.1:p.Pro885=
ENST00000683962.1:c.*2211C>T	ENSP00000506854.1:n.*2211C>T
ENST00000311895.8:c.2517C>T MANE Select	ENSP00000310520.7:p.Pro839=
ENST00000311895.7:c.2517C>T	ENSP00000310520.7:p.Pro839=
ENST00000389138.7:n.1794C>T
NM_005236.2:c.2517C>T , LRG_463t1:c.2517C>T	NP_005227.1:p.Pro839=
XM_011522424.1:c.2655C>T	XP_011520726.1:p.Pro885=
XM_011522425.1:c.1974C>T	XP_011520727.1:p.Pro658=
XM_011522426.1:c.1728C>T	XP_011520728.1:p.Pro576=
XM_011522427.1:c.1167C>T	XP_011520729.1:p.Pro389=
XR_932805.1:n.2676C>T
XM_011522424.3:c.2655C>T	XP_011520726.1:p.Pro885=
XM_017023043.2:c.1728C>T	XP_016878532.1:p.Pro576=
NM_005236.3:c.2517C>T MANE Select	NP_005227.1:p.Pro839=