Canonical Allele Identifier: CA918556

Gene: NEXN

Linked Data

• dbSNP Id: rs755997246
• ExAC: 1:78383276 T / C
• gnomAD v2: 1-78383276-T-C
• gnomAD v3: 1-77917591-T-C
• gnomAD v4: 1-77917591-T-C
• MyVariant Identifiers: chr1:g.78383276T>C (hg19) ; chr1:g.77917591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917591T>C , CM000663.2:g.77917591T>C	GRCh38
NC_000001.10:g.78383276T>C , CM000663.1:g.78383276T>C	GRCh37
NC_000001.9:g.78155864T>C	NCBI36
NG_016625.1:g.34077T>C , LRG_442:g.34077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.53T>C MANE Select	ENSP00000333938.7:p.Val18Ala
ENST00000330010.12:c.28-369T>C	ENSP00000327363.8:n.28-369T>C
ENST00000334785.11:c.53T>C	ENSP00000333938.7:p.Val18Ala
ENST00000401035.7:c.28-369T>C	ENSP00000383814.3:n.28-369T>C
ENST00000440324.5:c.53T>C	ENSP00000411902.1:p.Val18Ala
NM_001172309.1:c.28-369T>C	NP_001165780.1:n.28-369T>C
NM_144573.3:c.53T>C , LRG_442t1:c.53T>C	NP_653174.3:p.Val18Ala
XM_005271322.2:c.53T>C	XP_005271379.1:p.Val18Ala
XM_005271323.2:c.53T>C	XP_005271380.1:p.Val18Ala
XM_005271324.3:c.28-369T>C	XP_005271381.1:n.28-369T>C
XM_005271325.2:c.53T>C	XP_005271382.1:p.Val18Ala
XM_005271326.2:c.28-369T>C	XP_005271383.1:n.28-369T>C
XM_005271327.2:c.53T>C	XP_005271384.1:p.Val18Ala
XM_005271322.4:c.53T>C	XP_005271379.1:p.Val18Ala
XM_005271323.4:c.53T>C	XP_005271380.1:p.Val18Ala
XM_005271324.5:c.28-369T>C	XP_005271381.1:n.28-369T>C
XM_005271325.4:c.53T>C	XP_005271382.1:p.Val18Ala
XM_005271326.4:c.28-369T>C	XP_005271383.1:n.28-369T>C
XM_005271327.4:c.53T>C	XP_005271384.1:p.Val18Ala
NM_001172309.2:c.28-369T>C	NP_001165780.1:n.28-369T>C
NM_144573.4:c.53T>C MANE Select	NP_653174.3:p.Val18Ala