Canonical Allele Identifier: CA340886208

Gene: NEXN

Linked Data

• gnomAD v4: 1-77917972-C-G
• MyVariant Identifiers: chr1:g.78383657C>G (hg19) ; chr1:g.77917972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917972C>G , CM000663.2:g.77917972C>G	GRCh38
NC_000001.10:g.78383657C>G , CM000663.1:g.78383657C>G	GRCh37
NC_000001.9:g.78156245C>G	NCBI36
NG_016625.1:g.34458C>G , LRG_442:g.34458C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.232C>G MANE Select	ENSP00000333938.7:p.Leu78Val
ENST00000330010.12:c.40C>G	ENSP00000327363.8:p.Leu14Val
ENST00000334785.11:c.232C>G	ENSP00000333938.7:p.Leu78Val
ENST00000401035.7:c.40C>G	ENSP00000383814.3:p.Leu14Val
ENST00000440324.5:c.232C>G	ENSP00000411902.1:p.Leu78Val
NM_001172309.1:c.40C>G	NP_001165780.1:p.Leu14Val
NM_144573.3:c.232C>G , LRG_442t1:c.232C>G	NP_653174.3:p.Leu78Val
XM_005271322.2:c.232C>G	XP_005271379.1:p.Leu78Val
XM_005271323.2:c.232C>G	XP_005271380.1:p.Leu78Val
XM_005271324.3:c.40C>G	XP_005271381.1:p.Leu14Val
XM_005271325.2:c.232C>G	XP_005271382.1:p.Leu78Val
XM_005271326.2:c.40C>G	XP_005271383.1:p.Leu14Val
XM_005271327.2:c.232C>G	XP_005271384.1:p.Leu78Val
XM_005271322.4:c.232C>G	XP_005271379.1:p.Leu78Val
XM_005271323.4:c.232C>G	XP_005271380.1:p.Leu78Val
XM_005271324.5:c.40C>G	XP_005271381.1:p.Leu14Val
XM_005271325.4:c.232C>G	XP_005271382.1:p.Leu78Val
XM_005271326.4:c.40C>G	XP_005271383.1:p.Leu14Val
XM_005271327.4:c.232C>G	XP_005271384.1:p.Leu78Val
NM_001172309.2:c.40C>G	NP_001165780.1:p.Leu14Val
NM_144573.4:c.232C>G MANE Select	NP_653174.3:p.Leu78Val