Canonical Allele Identifier: CA918742

Gene: NEXN

Linked Data

• ClinVar Variation Id: 229059
• ClinVar RCV Id: RCV000214249 ; RCV002478770 ; RCV003165544
• dbSNP Id: rs750349053
• ExAC: 1:78392549 G / A
• gnomAD v2: 1-78392549-G-A
• gnomAD v3: 1-77926864-G-A
• gnomAD v4: 1-77926864-G-A
• MyVariant Identifiers: chr1:g.78392549G>A (hg19) ; chr1:g.77926864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77926864G>A , CM000663.2:g.77926864G>A	GRCh38
NC_000001.10:g.78392549G>A , CM000663.1:g.78392549G>A	GRCh37
NC_000001.9:g.78165137G>A	NCBI36
NG_016625.1:g.43350G>A , LRG_442:g.43350G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.836G>A MANE Select	ENSP00000333938.7:p.Arg279His
ENST00000330010.12:c.644G>A	ENSP00000327363.8:p.Arg215His
ENST00000334785.11:c.836G>A	ENSP00000333938.7:p.Arg279His
ENST00000342754.5:c.535G>A
ENST00000401035.7:c.644G>A	ENSP00000383814.3:p.Arg215His
ENST00000440324.5:c.794G>A	ENSP00000411902.1:p.Arg265His
ENST00000464998.1:n.296G>A
NM_001172309.1:c.644G>A	NP_001165780.1:p.Arg215His
NM_144573.3:c.836G>A , LRG_442t1:c.836G>A	NP_653174.3:p.Arg279His
XM_005271322.2:c.836G>A	XP_005271379.1:p.Arg279His
XM_005271323.2:c.794G>A	XP_005271380.1:p.Arg265His
XM_005271324.3:c.644G>A	XP_005271381.1:p.Arg215His
XM_005271325.2:c.836G>A	XP_005271382.1:p.Arg279His
XM_005271326.2:c.602G>A	XP_005271383.1:p.Arg201His
XM_005271327.2:c.448-2452G>A	XP_005271384.1:n.448-2452G>A
XM_005271322.4:c.836G>A	XP_005271379.1:p.Arg279His
XM_005271323.4:c.794G>A	XP_005271380.1:p.Arg265His
XM_005271324.5:c.644G>A	XP_005271381.1:p.Arg215His
XM_005271325.4:c.836G>A	XP_005271382.1:p.Arg279His
XM_005271326.4:c.602G>A	XP_005271383.1:p.Arg201His
XM_005271327.4:c.448-2452G>A	XP_005271384.1:n.448-2452G>A
NM_001172309.2:c.644G>A	NP_001165780.1:p.Arg215His
NM_144573.4:c.836G>A MANE Select	NP_653174.3:p.Arg279His