Canonical Allele Identifier: CA335415

Gene: NEXN

Linked Data

• ClinVar Variation Id: 201925
• ClinVar RCV Id: RCV000223852 ; RCV000535150 ; RCV000845501 ; RCV000619532 ; RCV000766517
• dbSNP Id: rs181520023
• ExAC: 1:78401691 C / T
• gnomAD v2: 1-78401691-C-T
• gnomAD v3: 1-77936006-C-T
• gnomAD v4: 1-77936006-C-T
• MyVariant Identifiers: chr1:g.78401691C>T (hg19) ; chr1:g.77936006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936006C>T , CM000663.2:g.77936006C>T	GRCh38
NC_000001.10:g.78401691C>T , CM000663.1:g.78401691C>T	GRCh37
NC_000001.9:g.78174279C>T	NCBI36
NG_016625.1:g.52492C>T , LRG_442:g.52492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1435C>T MANE Select	ENSP00000333938.7:p.Leu479Phe
ENST00000330010.12:c.1243C>T	ENSP00000327363.8:p.Leu415Phe
ENST00000334785.11:c.1435C>T	ENSP00000333938.7:p.Leu479Phe
ENST00000342754.5:c.1134C>T
ENST00000480732.2:n.1009C>T
NM_001172309.1:c.1243C>T	NP_001165780.1:p.Leu415Phe
NM_144573.3:c.1435C>T , LRG_442t1:c.1435C>T	NP_653174.3:p.Leu479Phe
XM_005271322.2:c.1435C>T	XP_005271379.1:p.Leu479Phe
XM_005271323.2:c.1393C>T	XP_005271380.1:p.Leu465Phe
XM_005271324.3:c.1243C>T	XP_005271381.1:p.Leu415Phe
XM_005271325.2:c.1251+2527C>T	XP_005271382.1:n.1251+2527C>T
XM_005271326.2:c.1201C>T	XP_005271383.1:p.Leu401Phe
XM_005271327.2:c.1018C>T	XP_005271384.1:p.Leu340Phe
XM_005271322.4:c.1435C>T	XP_005271379.1:p.Leu479Phe
XM_005271323.4:c.1393C>T	XP_005271380.1:p.Leu465Phe
XM_005271324.5:c.1243C>T	XP_005271381.1:p.Leu415Phe
XM_005271325.4:c.1251+2527C>T	XP_005271382.1:n.1251+2527C>T
XM_005271326.4:c.1201C>T	XP_005271383.1:p.Leu401Phe
XM_005271327.4:c.1018C>T	XP_005271384.1:p.Leu340Phe
NM_001172309.2:c.1243C>T	NP_001165780.1:p.Leu415Phe
NM_144573.4:c.1435C>T MANE Select	NP_653174.3:p.Leu479Phe