Canonical Allele Identifier: CA918724

Gene: NEXN

Linked Data

• ClinVar Variation Id: 520338
• ClinVar RCV Id: RCV000620810 ; RCV001462534
• dbSNP Id: rs781118443
• ExAC: 1:78392452 T / C
• gnomAD v2: 1-78392452-T-C
• gnomAD v3: 1-77926767-T-C
• gnomAD v4: 1-77926767-T-C
• MyVariant Identifiers: chr1:g.78392452T>C (hg19) ; chr1:g.77926767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77926767T>C , CM000663.2:g.77926767T>C	GRCh38
NC_000001.10:g.78392452T>C , CM000663.1:g.78392452T>C	GRCh37
NC_000001.9:g.78165040T>C	NCBI36
NG_016625.1:g.43253T>C , LRG_442:g.43253T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.739T>C MANE Select	ENSP00000333938.7:p.Leu247=
ENST00000330010.12:c.547T>C	ENSP00000327363.8:p.Leu183=
ENST00000334785.11:c.739T>C	ENSP00000333938.7:p.Leu247=
ENST00000342754.5:c.438T>C
ENST00000401035.7:c.547T>C	ENSP00000383814.3:p.Leu183=
ENST00000440324.5:c.697T>C	ENSP00000411902.1:p.Leu233=
ENST00000464998.1:n.199T>C
NM_001172309.1:c.547T>C	NP_001165780.1:p.Leu183=
NM_144573.3:c.739T>C , LRG_442t1:c.739T>C	NP_653174.3:p.Leu247=
XM_005271322.2:c.739T>C	XP_005271379.1:p.Leu247=
XM_005271323.2:c.697T>C	XP_005271380.1:p.Leu233=
XM_005271324.3:c.547T>C	XP_005271381.1:p.Leu183=
XM_005271325.2:c.739T>C	XP_005271382.1:p.Leu247=
XM_005271326.2:c.505T>C	XP_005271383.1:p.Leu169=
XM_005271327.2:c.448-2549T>C	XP_005271384.1:n.448-2549T>C
XM_005271322.4:c.739T>C	XP_005271379.1:p.Leu247=
XM_005271323.4:c.697T>C	XP_005271380.1:p.Leu233=
XM_005271324.5:c.547T>C	XP_005271381.1:p.Leu183=
XM_005271325.4:c.739T>C	XP_005271382.1:p.Leu247=
XM_005271326.4:c.505T>C	XP_005271383.1:p.Leu169=
XM_005271327.4:c.448-2549T>C	XP_005271384.1:n.448-2549T>C
NM_001172309.2:c.547T>C	NP_001165780.1:p.Leu183=
NM_144573.4:c.739T>C MANE Select	NP_653174.3:p.Leu247=