Canonical Allele Identifier: CA340879291

Gene: NEXN

Linked Data

• gnomAD v4: 1-77935986-C-T
• MyVariant Identifiers: chr1:g.78401671C>T (hg19) ; chr1:g.77935986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935986C>T , CM000663.2:g.77935986C>T	GRCh38
NC_000001.10:g.78401671C>T , CM000663.1:g.78401671C>T	GRCh37
NC_000001.9:g.78174259C>T	NCBI36
NG_016625.1:g.52472C>T , LRG_442:g.52472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1415C>T MANE Select	ENSP00000333938.7:p.Ala472Val
ENST00000330010.12:c.1223C>T	ENSP00000327363.8:p.Ala408Val
ENST00000334785.11:c.1415C>T	ENSP00000333938.7:p.Ala472Val
ENST00000342754.5:c.1114C>T
ENST00000480732.2:n.989C>T
NM_001172309.1:c.1223C>T	NP_001165780.1:p.Ala408Val
NM_144573.3:c.1415C>T , LRG_442t1:c.1415C>T	NP_653174.3:p.Ala472Val
XM_005271322.2:c.1415C>T	XP_005271379.1:p.Ala472Val
XM_005271323.2:c.1373C>T	XP_005271380.1:p.Ala458Val
XM_005271324.3:c.1223C>T	XP_005271381.1:p.Ala408Val
XM_005271325.2:c.1251+2507C>T	XP_005271382.1:n.1251+2507C>T
XM_005271326.2:c.1181C>T	XP_005271383.1:p.Ala394Val
XM_005271327.2:c.998C>T	XP_005271384.1:p.Ala333Val
XM_005271322.4:c.1415C>T	XP_005271379.1:p.Ala472Val
XM_005271323.4:c.1373C>T	XP_005271380.1:p.Ala458Val
XM_005271324.5:c.1223C>T	XP_005271381.1:p.Ala408Val
XM_005271325.4:c.1251+2507C>T	XP_005271382.1:n.1251+2507C>T
XM_005271326.4:c.1181C>T	XP_005271383.1:p.Ala394Val
XM_005271327.4:c.998C>T	XP_005271384.1:p.Ala333Val
NM_001172309.2:c.1223C>T	NP_001165780.1:p.Ala408Val
NM_144573.4:c.1415C>T MANE Select	NP_653174.3:p.Ala472Val