Canonical Allele Identifier: CA7910682

Gene: ERCC4

Linked Data

• dbSNP Id: rs753161715
• ExAC: 16:14041575 C / T
• gnomAD v2: 16-14041575-C-T
• gnomAD v4: 16-13947718-C-T
• MyVariant Identifiers: chr16:g.14041575C>T (hg19) ; chr16:g.13947718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947718C>T , CM000678.2:g.13947718C>T	GRCh38
NC_000016.9:g.14041575C>T , CM000678.1:g.14041575C>T	GRCh37
NC_000016.8:g.13949076C>T	NCBI36
NG_011442.1:g.32562C>T , LRG_463:g.32562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2260C>T	ENSP00000507912.1:p.Pro754Ser
ENST00000683962.1:c.*1816C>T	ENSP00000506854.1:n.*1816C>T
ENST00000311895.8:c.2122C>T MANE Select	ENSP00000310520.7:p.Pro708Ser
ENST00000311895.7:c.2122C>T	ENSP00000310520.7:p.Pro708Ser
ENST00000389138.7:n.1399C>T
ENST00000462862.1:c.435C>T	ENSP00000461322.1:n.435C>T
NM_005236.2:c.2122C>T , LRG_463t1:c.2122C>T	NP_005227.1:p.Pro708Ser
XM_011522424.1:c.2260C>T	XP_011520726.1:p.Pro754Ser
XM_011522425.1:c.1579C>T	XP_011520727.1:p.Pro527Ser
XM_011522426.1:c.1333C>T	XP_011520728.1:p.Pro445Ser
XM_011522427.1:c.772C>T	XP_011520729.1:p.Pro258Ser
XR_932805.1:n.2281C>T
XM_011522424.3:c.2260C>T	XP_011520726.1:p.Pro754Ser
XM_017023043.2:c.1333C>T	XP_016878532.1:p.Pro445Ser
NM_005236.3:c.2122C>T MANE Select	NP_005227.1:p.Pro708Ser