Canonical Allele Identifier: CA356725154

Gene: N4BP2

Linked Data

• ClinVar Variation Id: 2612757
• ClinVar RCV Id: RCV004354386
• dbSNP Id: rs1717946687
• gnomAD v3: 4-40121775-C-G
• gnomAD v4: 4-40121775-C-G
• MyVariant Identifiers: chr4:g.40123395C>G (hg19) ; chr4:g.40121775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40121775C>G , CM000666.2:g.40121775C>G	GRCh38
NC_000004.11:g.40123395C>G , CM000666.1:g.40123395C>G	GRCh37
NC_000004.10:g.39799790C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706658.1:c.*3455C>G	ENSP00000516486.1:n.*3455C>G
ENST00000261435.11:c.3664C>G MANE Select	ENSP00000261435.6:p.Pro1222Ala
ENST00000261435.10:c.3664C>G	ENSP00000261435.6:p.Pro1222Ala
ENST00000511480.5:c.*3455C>G	ENSP00000422436.1:n.*3455C>G
ENST00000513269.1:c.2603C>G
NM_018177.4:c.3664C>G	NP_060647.2:p.Pro1222Ala
XM_006714022.2:c.3424C>G	XP_006714085.1:p.Pro1142Ala
XM_006714023.2:c.3424C>G	XP_006714086.1:p.Pro1142Ala
XM_011513715.1:c.4060C>G	XP_011512017.1:p.Pro1354Ala
XM_011513716.1:c.4060C>G	XP_011512018.1:p.Pro1354Ala
XM_011513717.1:c.4060C>G	XP_011512019.1:p.Pro1354Ala
XM_011513718.1:c.3664C>G	XP_011512020.1:p.Pro1222Ala
XM_011513719.1:c.3424C>G	XP_011512021.1:p.Pro1142Ala
XM_011513720.1:c.3424C>G	XP_011512022.1:p.Pro1142Ala
XM_011513721.1:c.3424C>G	XP_011512023.1:p.Pro1142Ala
NM_001318359.1:c.3424C>G	NP_001305288.1:p.Pro1142Ala
NM_018177.5:c.3664C>G	NP_060647.2:p.Pro1222Ala
XM_006714023.3:c.3424C>G	XP_006714086.1:p.Pro1142Ala
XM_011513716.2:c.4060C>G	XP_011512018.1:p.Pro1354Ala
XM_011513717.2:c.4060C>G	XP_011512019.1:p.Pro1354Ala
XM_011513718.2:c.3664C>G	XP_011512020.1:p.Pro1222Ala
XM_011513719.2:c.3424C>G	XP_011512021.1:p.Pro1142Ala
XM_017008397.1:c.4060C>G	XP_016863886.1:p.Pro1354Ala
XM_017008398.1:c.3664C>G	XP_016863887.1:p.Pro1222Ala
XM_017008399.1:c.3424C>G	XP_016863888.1:p.Pro1142Ala
XR_001741283.1:n.4241C>G
NM_018177.6:c.3664C>G MANE Select	NP_060647.2:p.Pro1222Ala
NM_001318359.2:c.3424C>G	NP_001305288.1:p.Pro1142Ala