Canonical Allele Identifier: CA2897265

Gene: N4BP2

Linked Data

• dbSNP Id: rs750374247
• ExAC: 4:40123413 C / G
• gnomAD v2: 4-40123413-C-G
• gnomAD v3: 4-40121793-C-G
• gnomAD v4: 4-40121793-C-G
• MyVariant Identifiers: chr4:g.40123413C>G (hg19) ; chr4:g.40121793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40121793C>G , CM000666.2:g.40121793C>G	GRCh38
NC_000004.11:g.40123413C>G , CM000666.1:g.40123413C>G	GRCh37
NC_000004.10:g.39799808C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706658.1:c.*3473C>G	ENSP00000516486.1:n.*3473C>G
ENST00000261435.11:c.3682C>G MANE Select	ENSP00000261435.6:p.Leu1228Val
ENST00000261435.10:c.3682C>G	ENSP00000261435.6:p.Leu1228Val
ENST00000511480.5:c.*3473C>G	ENSP00000422436.1:n.*3473C>G
ENST00000513269.1:c.2621C>G
NM_018177.4:c.3682C>G	NP_060647.2:p.Leu1228Val
XM_006714022.2:c.3442C>G	XP_006714085.1:p.Leu1148Val
XM_006714023.2:c.3442C>G	XP_006714086.1:p.Leu1148Val
XM_011513715.1:c.4078C>G	XP_011512017.1:p.Leu1360Val
XM_011513716.1:c.4078C>G	XP_011512018.1:p.Leu1360Val
XM_011513717.1:c.4078C>G	XP_011512019.1:p.Leu1360Val
XM_011513718.1:c.3682C>G	XP_011512020.1:p.Leu1228Val
XM_011513719.1:c.3442C>G	XP_011512021.1:p.Leu1148Val
XM_011513720.1:c.3442C>G	XP_011512022.1:p.Leu1148Val
XM_011513721.1:c.3442C>G	XP_011512023.1:p.Leu1148Val
NM_001318359.1:c.3442C>G	NP_001305288.1:p.Leu1148Val
NM_018177.5:c.3682C>G	NP_060647.2:p.Leu1228Val
XM_006714023.3:c.3442C>G	XP_006714086.1:p.Leu1148Val
XM_011513716.2:c.4078C>G	XP_011512018.1:p.Leu1360Val
XM_011513717.2:c.4078C>G	XP_011512019.1:p.Leu1360Val
XM_011513718.2:c.3682C>G	XP_011512020.1:p.Leu1228Val
XM_011513719.2:c.3442C>G	XP_011512021.1:p.Leu1148Val
XM_017008397.1:c.4078C>G	XP_016863886.1:p.Leu1360Val
XM_017008398.1:c.3682C>G	XP_016863887.1:p.Leu1228Val
XM_017008399.1:c.3442C>G	XP_016863888.1:p.Leu1148Val
XR_001741283.1:n.4259C>G
NM_018177.6:c.3682C>G MANE Select	NP_060647.2:p.Leu1228Val
NM_001318359.2:c.3442C>G	NP_001305288.1:p.Leu1148Val