Canonical Allele Identifier: CA340885125

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1757161
• ClinVar RCV Id: RCV002367346
• dbSNP Id: rs1160083243
• MyVariant Identifiers: chr1:g.78383293C>G (hg19) ; chr1:g.77917608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917608C>G , CM000663.2:g.77917608C>G	GRCh38
NC_000001.10:g.78383293C>G , CM000663.1:g.78383293C>G	GRCh37
NC_000001.9:g.78155881C>G	NCBI36
NG_016625.1:g.34094C>G , LRG_442:g.34094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.70C>G MANE Select	ENSP00000333938.7:p.Pro24Ala
ENST00000330010.12:c.28-352C>G	ENSP00000327363.8:n.28-352C>G
ENST00000334785.11:c.70C>G	ENSP00000333938.7:p.Pro24Ala
ENST00000401035.7:c.28-352C>G	ENSP00000383814.3:n.28-352C>G
ENST00000440324.5:c.70C>G	ENSP00000411902.1:p.Pro24Ala
NM_001172309.1:c.28-352C>G	NP_001165780.1:n.28-352C>G
NM_144573.3:c.70C>G , LRG_442t1:c.70C>G	NP_653174.3:p.Pro24Ala
XM_005271322.2:c.70C>G	XP_005271379.1:p.Pro24Ala
XM_005271323.2:c.70C>G	XP_005271380.1:p.Pro24Ala
XM_005271324.3:c.28-352C>G	XP_005271381.1:n.28-352C>G
XM_005271325.2:c.70C>G	XP_005271382.1:p.Pro24Ala
XM_005271326.2:c.28-352C>G	XP_005271383.1:n.28-352C>G
XM_005271327.2:c.70C>G	XP_005271384.1:p.Pro24Ala
XM_005271322.4:c.70C>G	XP_005271379.1:p.Pro24Ala
XM_005271323.4:c.70C>G	XP_005271380.1:p.Pro24Ala
XM_005271324.5:c.28-352C>G	XP_005271381.1:n.28-352C>G
XM_005271325.4:c.70C>G	XP_005271382.1:p.Pro24Ala
XM_005271326.4:c.28-352C>G	XP_005271383.1:n.28-352C>G
XM_005271327.4:c.70C>G	XP_005271384.1:p.Pro24Ala
NM_001172309.2:c.28-352C>G	NP_001165780.1:n.28-352C>G
NM_144573.4:c.70C>G MANE Select	NP_653174.3:p.Pro24Ala