Canonical Allele Identifier: CA918858

Gene: NEXN

Linked Data

• dbSNP Id: rs776163470
• ExAC: 1:78401557 T / G
• gnomAD v2: 1-78401557-T-G
• gnomAD v3: 1-77935872-T-G
• gnomAD v4: 1-77935872-T-G
• MyVariant Identifiers: chr1:g.78401557T>G (hg19) ; chr1:g.78401557_78401558delinsGG (hg19) ; chr1:g.77935872T>G (hg38) ; chr1:g.77935872_77935873delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935872T>G , CM000663.2:g.77935872T>G	GRCh38
NC_000001.10:g.78401557T>G , CM000663.1:g.78401557T>G	GRCh37
NC_000001.9:g.78174145T>G	NCBI36
NG_016625.1:g.52358T>G , LRG_442:g.52358T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1301T>G MANE Select	ENSP00000333938.7:p.Leu434Arg
ENST00000330010.12:c.1109T>G	ENSP00000327363.8:p.Leu370Arg
ENST00000334785.11:c.1301T>G	ENSP00000333938.7:p.Leu434Arg
ENST00000342754.5:c.1000T>G
ENST00000440324.5:c.1259T>G	ENSP00000411902.1:p.Leu420Arg
ENST00000464998.1:n.761T>G
ENST00000480732.2:n.875T>G
NM_001172309.1:c.1109T>G	NP_001165780.1:p.Leu370Arg
NM_144573.3:c.1301T>G , LRG_442t1:c.1301T>G	NP_653174.3:p.Leu434Arg
XM_005271322.2:c.1301T>G	XP_005271379.1:p.Leu434Arg
XM_005271323.2:c.1259T>G	XP_005271380.1:p.Leu420Arg
XM_005271324.3:c.1109T>G	XP_005271381.1:p.Leu370Arg
XM_005271325.2:c.1251+2393T>G	XP_005271382.1:n.1251+2393T>G
XM_005271326.2:c.1067T>G	XP_005271383.1:p.Leu356Arg
XM_005271327.2:c.884T>G	XP_005271384.1:p.Leu295Arg
XM_005271322.4:c.1301T>G	XP_005271379.1:p.Leu434Arg
XM_005271323.4:c.1259T>G	XP_005271380.1:p.Leu420Arg
XM_005271324.5:c.1109T>G	XP_005271381.1:p.Leu370Arg
XM_005271325.4:c.1251+2393T>G	XP_005271382.1:n.1251+2393T>G
XM_005271326.4:c.1067T>G	XP_005271383.1:p.Leu356Arg
XM_005271327.4:c.884T>G	XP_005271384.1:p.Leu295Arg
NM_001172309.2:c.1109T>G	NP_001165780.1:p.Leu370Arg
NM_144573.4:c.1301T>G MANE Select	NP_653174.3:p.Leu434Arg