Canonical Allele Identifier: CA142110

Gene: NEXN

Linked Data

• ClinVar Variation Id: 47889
• ClinVar RCV Id: RCV000041159 ; RCV000456926 ; RCV001496600 ; RCV001798219 ; RCV002381324 ; RCV004541205
• dbSNP Id: rs397517845
• ExAC: 1:78401624 A / C
• gnomAD v2: 1-78401624-A-C
• gnomAD v3: 1-77935939-A-C
• gnomAD v4: 1-77935939-A-C
• MyVariant Identifiers: chr1:g.78401624A>C (hg19) ; chr1:g.77935939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935939A>C , CM000663.2:g.77935939A>C	GRCh38
NC_000001.10:g.78401624A>C , CM000663.1:g.78401624A>C	GRCh37
NC_000001.9:g.78174212A>C	NCBI36
NG_016625.1:g.52425A>C , LRG_442:g.52425A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1368A>C MANE Select	ENSP00000333938.7:p.Gly456=
ENST00000330010.12:c.1176A>C	ENSP00000327363.8:p.Gly392=
ENST00000334785.11:c.1368A>C	ENSP00000333938.7:p.Gly456=
ENST00000342754.5:c.1067A>C
ENST00000464998.1:n.828A>C
ENST00000480732.2:n.942A>C
NM_001172309.1:c.1176A>C	NP_001165780.1:p.Gly392=
NM_144573.3:c.1368A>C , LRG_442t1:c.1368A>C	NP_653174.3:p.Gly456=
XM_005271322.2:c.1368A>C	XP_005271379.1:p.Gly456=
XM_005271323.2:c.1326A>C	XP_005271380.1:p.Gly442=
XM_005271324.3:c.1176A>C	XP_005271381.1:p.Gly392=
XM_005271325.2:c.1251+2460A>C	XP_005271382.1:n.1251+2460A>C
XM_005271326.2:c.1134A>C	XP_005271383.1:p.Gly378=
XM_005271327.2:c.951A>C	XP_005271384.1:p.Gly317=
XM_005271322.4:c.1368A>C	XP_005271379.1:p.Gly456=
XM_005271323.4:c.1326A>C	XP_005271380.1:p.Gly442=
XM_005271324.5:c.1176A>C	XP_005271381.1:p.Gly392=
XM_005271325.4:c.1251+2460A>C	XP_005271382.1:n.1251+2460A>C
XM_005271326.4:c.1134A>C	XP_005271383.1:p.Gly378=
XM_005271327.4:c.951A>C	XP_005271384.1:p.Gly317=
NM_001172309.2:c.1176A>C	NP_001165780.1:p.Gly392=
NM_144573.4:c.1368A>C MANE Select	NP_653174.3:p.Gly456=