Canonical Allele Identifier: CA340876899

Gene: NEXN

Linked Data

• gnomAD v3: 1-77933378-C-A
• gnomAD v4: 1-77933378-C-A
• MyVariant Identifiers: chr1:g.78399063C>A (hg19) ; chr1:g.77933378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933378C>A , CM000663.2:g.77933378C>A	GRCh38
NC_000001.10:g.78399063C>A , CM000663.1:g.78399063C>A	GRCh37
NC_000001.9:g.78171651C>A	NCBI36
NG_016625.1:g.49864C>A , LRG_442:g.49864C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1150C>A MANE Select	ENSP00000333938.7:p.Gln384Lys
ENST00000330010.12:c.958C>A	ENSP00000327363.8:p.Gln320Lys
ENST00000334785.11:c.1150C>A	ENSP00000333938.7:p.Gln384Lys
ENST00000342754.5:c.849C>A
ENST00000401035.7:c.958C>A	ENSP00000383814.3:p.Gln320Lys
ENST00000440324.5:c.1108C>A	ENSP00000411902.1:p.Gln370Lys
ENST00000464998.1:n.610C>A
ENST00000480732.2:n.724C>A
NM_001172309.1:c.958C>A	NP_001165780.1:p.Gln320Lys
NM_144573.3:c.1150C>A , LRG_442t1:c.1150C>A	NP_653174.3:p.Gln384Lys
XM_005271322.2:c.1150C>A	XP_005271379.1:p.Gln384Lys
XM_005271323.2:c.1108C>A	XP_005271380.1:p.Gln370Lys
XM_005271324.3:c.958C>A	XP_005271381.1:p.Gln320Lys
XM_005271325.2:c.1150C>A	XP_005271382.1:p.Gln384Lys
XM_005271326.2:c.916C>A	XP_005271383.1:p.Gln306Lys
XM_005271327.2:c.733C>A	XP_005271384.1:p.Gln245Lys
XM_005271322.4:c.1150C>A	XP_005271379.1:p.Gln384Lys
XM_005271323.4:c.1108C>A	XP_005271380.1:p.Gln370Lys
XM_005271324.5:c.958C>A	XP_005271381.1:p.Gln320Lys
XM_005271325.4:c.1150C>A	XP_005271382.1:p.Gln384Lys
XM_005271326.4:c.916C>A	XP_005271383.1:p.Gln306Lys
XM_005271327.4:c.733C>A	XP_005271384.1:p.Gln245Lys
NM_001172309.2:c.958C>A	NP_001165780.1:p.Gln320Lys
NM_144573.4:c.1150C>A MANE Select	NP_653174.3:p.Gln384Lys