Canonical Allele Identifier: CA340876856

Gene: NEXN

Linked Data

• dbSNP Id: rs1650464427
• gnomAD v4: 1-77933369-T-G
• MyVariant Identifiers: chr1:g.78399054T>G (hg19) ; chr1:g.77933369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933369T>G , CM000663.2:g.77933369T>G	GRCh38
NC_000001.10:g.78399054T>G , CM000663.1:g.78399054T>G	GRCh37
NC_000001.9:g.78171642T>G	NCBI36
NG_016625.1:g.49855T>G , LRG_442:g.49855T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1141T>G MANE Select	ENSP00000333938.7:p.Leu381Val
ENST00000330010.12:c.949T>G	ENSP00000327363.8:p.Leu317Val
ENST00000334785.11:c.1141T>G	ENSP00000333938.7:p.Leu381Val
ENST00000342754.5:c.840T>G
ENST00000401035.7:c.949T>G	ENSP00000383814.3:p.Leu317Val
ENST00000440324.5:c.1099T>G	ENSP00000411902.1:p.Leu367Val
ENST00000464998.1:n.601T>G
ENST00000480732.2:n.715T>G
NM_001172309.1:c.949T>G	NP_001165780.1:p.Leu317Val
NM_144573.3:c.1141T>G , LRG_442t1:c.1141T>G	NP_653174.3:p.Leu381Val
XM_005271322.2:c.1141T>G	XP_005271379.1:p.Leu381Val
XM_005271323.2:c.1099T>G	XP_005271380.1:p.Leu367Val
XM_005271324.3:c.949T>G	XP_005271381.1:p.Leu317Val
XM_005271325.2:c.1141T>G	XP_005271382.1:p.Leu381Val
XM_005271326.2:c.907T>G	XP_005271383.1:p.Leu303Val
XM_005271327.2:c.724T>G	XP_005271384.1:p.Leu242Val
XM_005271322.4:c.1141T>G	XP_005271379.1:p.Leu381Val
XM_005271323.4:c.1099T>G	XP_005271380.1:p.Leu367Val
XM_005271324.5:c.949T>G	XP_005271381.1:p.Leu317Val
XM_005271325.4:c.1141T>G	XP_005271382.1:p.Leu381Val
XM_005271326.4:c.907T>G	XP_005271383.1:p.Leu303Val
XM_005271327.4:c.724T>G	XP_005271384.1:p.Leu242Val
NM_001172309.2:c.949T>G	NP_001165780.1:p.Leu317Val
NM_144573.4:c.1141T>G MANE Select	NP_653174.3:p.Leu381Val