Canonical Allele Identifier: CA918936

Gene: NEXN

Linked Data

• dbSNP Id: rs746088518
• ExAC: 1:78407855 C / A
• gnomAD v2: 1-78407855-C-A
• gnomAD v4: 1-77942170-C-A
• MyVariant Identifiers: chr1:g.78407855C>A (hg19) ; chr1:g.77942170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942170C>A , CM000663.2:g.77942170C>A	GRCh38
NC_000001.10:g.78407855C>A , CM000663.1:g.78407855C>A	GRCh37
NC_000001.9:g.78180443C>A	NCBI36
NG_016625.1:g.58656C>A , LRG_442:g.58656C>A
NG_033243.2:g.41924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1621C>A MANE Select	ENSP00000333938.7:p.Gln541Lys
ENST00000330010.12:c.1429C>A	ENSP00000327363.8:p.Gln477Lys
ENST00000334785.11:c.1621C>A	ENSP00000333938.7:p.Gln541Lys
ENST00000342754.5:c.1320C>A
ENST00000470735.1:n.460C>A
ENST00000480732.2:n.1195C>A
NM_001172309.1:c.1429C>A	NP_001165780.1:p.Gln477Lys
NM_144573.3:c.1621C>A , LRG_442t1:c.1621C>A	NP_653174.3:p.Gln541Lys
XM_005271322.2:c.1621C>A	XP_005271379.1:p.Gln541Lys
XM_005271323.2:c.1579C>A	XP_005271380.1:p.Gln527Lys
XM_005271324.3:c.1429C>A	XP_005271381.1:p.Gln477Lys
XM_005271325.2:c.1399C>A	XP_005271382.1:p.Gln467Lys
XM_005271326.2:c.1387C>A	XP_005271383.1:p.Gln463Lys
XM_005271327.2:c.1204C>A	XP_005271384.1:p.Gln402Lys
XM_005271322.4:c.1621C>A	XP_005271379.1:p.Gln541Lys
XM_005271323.4:c.1579C>A	XP_005271380.1:p.Gln527Lys
XM_005271324.5:c.1429C>A	XP_005271381.1:p.Gln477Lys
XM_005271325.4:c.1399C>A	XP_005271382.1:p.Gln467Lys
XM_005271326.4:c.1387C>A	XP_005271383.1:p.Gln463Lys
XM_005271327.4:c.1204C>A	XP_005271384.1:p.Gln402Lys
NM_001172309.2:c.1429C>A	NP_001165780.1:p.Gln477Lys
NM_144573.4:c.1621C>A MANE Select	NP_653174.3:p.Gln541Lys