Canonical Allele Identifier: CA919000

Gene: NEXN

Linked Data

• ClinVar Variation Id: 298090
• ClinVar RCV Id: RCV000344842 ; RCV000403905 ; RCV001850571 ; RCV002411191
• dbSNP Id: rs775292649
• ExAC: 1:78408378 T / C
• gnomAD v2: 1-78408378-T-C
• gnomAD v3: 1-77942693-T-C
• gnomAD v4: 1-77942693-T-C
• MyVariant Identifiers: chr1:g.78408378T>C (hg19) ; chr1:g.77942693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942693T>C , CM000663.2:g.77942693T>C	GRCh38
NC_000001.10:g.78408378T>C , CM000663.1:g.78408378T>C	GRCh37
NC_000001.9:g.78180966T>C	NCBI36
NG_016625.1:g.59179T>C , LRG_442:g.59179T>C
NG_033243.2:g.41401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1892T>C MANE Select	ENSP00000333938.7:p.Ile631Thr
ENST00000330010.12:c.1700T>C	ENSP00000327363.8:p.Ile567Thr
ENST00000334785.11:c.1892T>C	ENSP00000333938.7:p.Ile631Thr
ENST00000342754.5:c.1591T>C
ENST00000470735.1:n.731T>C
ENST00000480732.2:n.1466T>C
NM_001172309.1:c.1700T>C	NP_001165780.1:p.Ile567Thr
NM_144573.3:c.1892T>C , LRG_442t1:c.1892T>C	NP_653174.3:p.Ile631Thr
XM_005271322.2:c.1892T>C	XP_005271379.1:p.Ile631Thr
XM_005271323.2:c.1850T>C	XP_005271380.1:p.Ile617Thr
XM_005271324.3:c.1700T>C	XP_005271381.1:p.Ile567Thr
XM_005271325.2:c.1670T>C	XP_005271382.1:p.Ile557Thr
XM_005271326.2:c.1658T>C	XP_005271383.1:p.Ile553Thr
XM_005271327.2:c.1475T>C	XP_005271384.1:p.Ile492Thr
XM_005271322.4:c.1892T>C	XP_005271379.1:p.Ile631Thr
XM_005271323.4:c.1850T>C	XP_005271380.1:p.Ile617Thr
XM_005271324.5:c.1700T>C	XP_005271381.1:p.Ile567Thr
XM_005271325.4:c.1670T>C	XP_005271382.1:p.Ile557Thr
XM_005271326.4:c.1658T>C	XP_005271383.1:p.Ile553Thr
XM_005271327.4:c.1475T>C	XP_005271384.1:p.Ile492Thr
NM_001172309.2:c.1700T>C	NP_001165780.1:p.Ile567Thr
NM_144573.4:c.1892T>C MANE Select	NP_653174.3:p.Ile631Thr