Canonical Allele Identifier: CA918939

Gene: NEXN

Linked Data

• dbSNP Id: rs762898853
• ExAC: 1:78407861 G / C
• gnomAD v2: 1-78407861-G-C
• gnomAD v4: 1-77942176-G-C
• MyVariant Identifiers: chr1:g.78407861G>C (hg19) ; chr1:g.77942176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942176G>C , CM000663.2:g.77942176G>C	GRCh38
NC_000001.10:g.78407861G>C , CM000663.1:g.78407861G>C	GRCh37
NC_000001.9:g.78180449G>C	NCBI36
NG_016625.1:g.58662G>C , LRG_442:g.58662G>C
NG_033243.2:g.41918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1627G>C MANE Select	ENSP00000333938.7:p.Glu543Gln
ENST00000330010.12:c.1435G>C	ENSP00000327363.8:p.Glu479Gln
ENST00000334785.11:c.1627G>C	ENSP00000333938.7:p.Glu543Gln
ENST00000342754.5:c.1326G>C
ENST00000470735.1:n.466G>C
ENST00000480732.2:n.1201G>C
NM_001172309.1:c.1435G>C	NP_001165780.1:p.Glu479Gln
NM_144573.3:c.1627G>C , LRG_442t1:c.1627G>C	NP_653174.3:p.Glu543Gln
XM_005271322.2:c.1627G>C	XP_005271379.1:p.Glu543Gln
XM_005271323.2:c.1585G>C	XP_005271380.1:p.Glu529Gln
XM_005271324.3:c.1435G>C	XP_005271381.1:p.Glu479Gln
XM_005271325.2:c.1405G>C	XP_005271382.1:p.Glu469Gln
XM_005271326.2:c.1393G>C	XP_005271383.1:p.Glu465Gln
XM_005271327.2:c.1210G>C	XP_005271384.1:p.Glu404Gln
XM_005271322.4:c.1627G>C	XP_005271379.1:p.Glu543Gln
XM_005271323.4:c.1585G>C	XP_005271380.1:p.Glu529Gln
XM_005271324.5:c.1435G>C	XP_005271381.1:p.Glu479Gln
XM_005271325.4:c.1405G>C	XP_005271382.1:p.Glu469Gln
XM_005271326.4:c.1393G>C	XP_005271383.1:p.Glu465Gln
XM_005271327.4:c.1210G>C	XP_005271384.1:p.Glu404Gln
NM_001172309.2:c.1435G>C	NP_001165780.1:p.Glu479Gln
NM_144573.4:c.1627G>C MANE Select	NP_653174.3:p.Glu543Gln