Canonical Allele Identifier: CA340878437

Gene: NEXN

Linked Data

• dbSNP Id: rs1187794613
• gnomAD v2: 1-78401553-G-T
• gnomAD v4: 1-77935868-G-T
• MyVariant Identifiers: chr1:g.78401553G>T (hg19) ; chr1:g.77935868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935868G>T , CM000663.2:g.77935868G>T	GRCh38
NC_000001.10:g.78401553G>T , CM000663.1:g.78401553G>T	GRCh37
NC_000001.9:g.78174141G>T	NCBI36
NG_016625.1:g.52354G>T , LRG_442:g.52354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1297G>T MANE Select	ENSP00000333938.7:p.Glu433Ter
ENST00000330010.12:c.1105G>T	ENSP00000327363.8:p.Glu369Ter
ENST00000334785.11:c.1297G>T	ENSP00000333938.7:p.Glu433Ter
ENST00000342754.5:c.996G>T
ENST00000440324.5:c.1255G>T	ENSP00000411902.1:p.Glu419Ter
ENST00000464998.1:n.757G>T
ENST00000480732.2:n.871G>T
NM_001172309.1:c.1105G>T	NP_001165780.1:p.Glu369Ter
NM_144573.3:c.1297G>T , LRG_442t1:c.1297G>T	NP_653174.3:p.Glu433Ter
XM_005271322.2:c.1297G>T	XP_005271379.1:p.Glu433Ter
XM_005271323.2:c.1255G>T	XP_005271380.1:p.Glu419Ter
XM_005271324.3:c.1105G>T	XP_005271381.1:p.Glu369Ter
XM_005271325.2:c.1251+2389G>T	XP_005271382.1:n.1251+2389G>T
XM_005271326.2:c.1063G>T	XP_005271383.1:p.Glu355Ter
XM_005271327.2:c.880G>T	XP_005271384.1:p.Glu294Ter
XM_005271322.4:c.1297G>T	XP_005271379.1:p.Glu433Ter
XM_005271323.4:c.1255G>T	XP_005271380.1:p.Glu419Ter
XM_005271324.5:c.1105G>T	XP_005271381.1:p.Glu369Ter
XM_005271325.4:c.1251+2389G>T	XP_005271382.1:n.1251+2389G>T
XM_005271326.4:c.1063G>T	XP_005271383.1:p.Glu355Ter
XM_005271327.4:c.880G>T	XP_005271384.1:p.Glu294Ter
NM_001172309.2:c.1105G>T	NP_001165780.1:p.Glu369Ter
NM_144573.4:c.1297G>T MANE Select	NP_653174.3:p.Glu433Ter