Canonical Allele Identifier: CA394812288

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607915
• gnomAD v4: 16-13935598-C-G
• MyVariant Identifiers: chr16:g.14029455C>G (hg19) ; chr16:g.13935598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935598C>G , CM000678.2:g.13935598C>G	GRCh38
NC_000016.9:g.14029455C>G , CM000678.1:g.14029455C>G	GRCh37
NC_000016.8:g.13936956C>G	NCBI36
NG_011442.1:g.20442C>G , LRG_463:g.20442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1744C>G
ENST00000682617.1:c.1804C>G	ENSP00000507912.1:p.Pro602Ala
ENST00000682826.1:c.*980C>G	ENSP00000507274.1:n.*980C>G
ENST00000682909.1:n.3706C>G
ENST00000683277.1:n.3311C>G
ENST00000683407.1:n.1674C>G
ENST00000683962.1:c.*1360C>G	ENSP00000506854.1:n.*1360C>G
ENST00000311895.8:c.1666C>G MANE Select	ENSP00000310520.7:p.Pro556Ala
ENST00000311895.7:c.1666C>G	ENSP00000310520.7:p.Pro556Ala
ENST00000389138.7:n.943C>G
NM_005236.2:c.1666C>G , LRG_463t1:c.1666C>G	NP_005227.1:p.Pro556Ala
XM_011522424.1:c.1804C>G	XP_011520726.1:p.Pro602Ala
XM_011522425.1:c.1123C>G	XP_011520727.1:p.Pro375Ala
XM_011522426.1:c.877C>G	XP_011520728.1:p.Pro293Ala
XM_011522427.1:c.316C>G	XP_011520729.1:p.Pro106Ala
XR_932805.1:n.1825C>G
XM_011522424.3:c.1804C>G	XP_011520726.1:p.Pro602Ala
XM_017023043.2:c.877C>G	XP_016878532.1:p.Pro293Ala
NM_005236.3:c.1666C>G MANE Select	NP_005227.1:p.Pro556Ala