Canonical Allele Identifier: CA3146491

Gene: NEIL3

Linked Data

• ClinVar Variation Id: 2688525
• ClinVar RCV Id: RCV003490419
• dbSNP Id: rs2048074
• ExAC: 4:178274565 A / G
• gnomAD v2: 4-178274565-A-G
• gnomAD v3: 4-177353411-A-G
• gnomAD v4: 4-177353411-A-G
• MyVariant Identifiers: chr4:g.178274565A>G (hg19) ; chr4:g.177353411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177353411A>G , CM000666.2:g.177353411A>G	GRCh38
NC_000004.11:g.178274565A>G , CM000666.1:g.178274565A>G	GRCh37
NC_000004.10:g.178511559A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264596.4:c.1143A>G MANE Select	ENSP00000264596.3:p.Arg381=
ENST00000264596.3:c.1143A>G	ENSP00000264596.3:p.Arg381=
ENST00000513321.1:c.*417A>G	ENSP00000424735.1:n.*417A>G
NM_018248.2:c.1143A>G	NP_060718.2:p.Arg381=
XR_939503.1:n.445+3584T>C
XR_939504.1:n.556+3584T>C
XR_939505.1:n.335+3584T>C
XR_939506.1:n.216+3584T>C
XM_017008360.1:c.1143A>G	XP_016863849.1:p.Arg381=
XR_001741926.1:n.360+3584T>C
NM_018248.3:c.1143A>G MANE Select	NP_060718.3:p.Arg381=