Canonical Allele Identifier: CA15111371

Gene: NBPF3

Linked Data

• dbSNP Id: rs4654748
• gnomAD v2: 1-21786068-C-T
• gnomAD v3: 1-21459575-C-T
• gnomAD v4: 1-21459575-C-T
• MyVariant Identifiers: chr1:g.21786068C>T (hg19) ; chr1:g.21459575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21459575C>T , CM000663.2:g.21459575C>T	GRCh38
NC_000001.10:g.21786068C>T , CM000663.1:g.21786068C>T	GRCh37
NC_000001.9:g.21658655C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000318249.10:c.134-9113C>T MANE Select	ENSP00000316782.5:n.134-9113C>T
ENST00000318220.10:c.134-6512C>T	ENSP00000316739.7:n.134-6512C>T
ENST00000318249.9:c.134-9113C>T	ENSP00000316782.5:n.134-9113C>T
ENST00000342104.9:c.134-9113C>T	ENSP00000340336.5:n.134-9113C>T
ENST00000434838.6:c.*145-174C>T	ENSP00000391865.2:n.*145-174C>T
ENST00000454000.6:c.134-11057C>T	ENSP00000415711.2:n.134-11057C>T
ENST00000486229.5:c.134-6512C>T	ENSP00000478530.1:n.134-6512C>T
NM_001256416.2:c.134-9113C>T	NP_001243345.1:n.134-9113C>T
NM_001256417.2:c.134-11057C>T	NP_001243346.1:n.134-11057C>T
NM_032264.4:c.134-9113C>T	NP_115640.1:n.134-9113C>T
NR_046176.2:n.532-6512C>T
XM_006710957.1:c.134-9113C>T	XP_006711020.1:n.134-9113C>T
XM_006710958.1:c.-378-6512C>T	XP_006711021.1:n.-378-6512C>T
XM_006710959.2:c.-180-8866C>T	XP_006711022.1:n.-180-8866C>T
XM_011542274.1:c.134-9113C>T	XP_011540576.1:n.134-9113C>T
XM_011542275.1:c.134-9113C>T	XP_011540577.1:n.134-9113C>T
XM_011542276.1:c.-647-6160C>T	XP_011540578.1:n.-647-6160C>T
XM_011542277.1:c.-565+6145C>T	XP_011540579.1:n.-565+6145C>T
XM_011542278.1:c.-461-6160C>T	XP_011540580.1:n.-461-6160C>T
XM_011542279.1:c.-333-6160C>T	XP_011540581.1:n.-333-6160C>T
XM_011542280.1:c.-181+6145C>T	XP_011540582.1:n.-181+6145C>T
XM_011542281.1:c.-180-8866C>T	XP_011540583.1:n.-180-8866C>T
NM_001330381.1:c.-379+6145C>T	NP_001317310.1:n.-379+6145C>T
XM_017002500.1:c.-564-6512C>T	XP_016857989.1:n.-564-6512C>T
XM_017002501.1:c.-461-6160C>T	XP_016857990.1:n.-461-6160C>T
XM_017002502.1:c.-378-6512C>T	XP_016857991.1:n.-378-6512C>T
XM_024450188.1:c.-1247-5560C>T	XP_024305956.1:n.-1247-5560C>T
XM_024450190.1:c.-1404+6145C>T	XP_024305958.1:n.-1404+6145C>T
NM_001256416.3:c.134-9113C>T	NP_001243345.1:n.134-9113C>T
NM_001256417.3:c.134-11057C>T	NP_001243346.1:n.134-11057C>T
NM_001330381.2:c.-379+6145C>T	NP_001317310.1:n.-379+6145C>T
NM_001377491.1:c.-378-6512C>T	NP_001364420.1:n.-378-6512C>T
NM_001377492.1:c.-647-6160C>T	NP_001364421.1:n.-647-6160C>T
NM_001377493.1:c.-565+6145C>T	NP_001364422.1:n.-565+6145C>T
NM_001377494.1:c.-461-6160C>T	NP_001364423.1:n.-461-6160C>T
NM_001377495.1:c.-1247-5560C>T	NP_001364424.1:n.-1247-5560C>T
NM_001377496.1:c.-564-6512C>T	NP_001364425.1:n.-564-6512C>T
NM_032264.6:c.134-9113C>T MANE Select	NP_115640.1:n.134-9113C>T
NR_046176.3:n.485-6512C>T
NM_001256416.4:c.134-9113C>T	NP_001243345.1:n.134-9113C>T
NM_001256417.4:c.134-11057C>T	NP_001243346.1:n.134-11057C>T
NM_001330381.3:c.-379+6145C>T	NP_001317310.1:n.-379+6145C>T
NR_046176.4:n.485-6512C>T