Canonical Allele Identifier: CA918558

Gene: NEXN

Linked Data

• ClinVar Variation Id: 756867
• ClinVar RCV Id: RCV000934404 ; RCV001699472 ; RCV001529774 ; RCV002363402
• dbSNP Id: rs749182975
• ExAC: 1:78383289 T / C
• gnomAD v2: 1-78383289-T-C
• gnomAD v3: 1-77917604-T-C
• gnomAD v4: 1-77917604-T-C
• MyVariant Identifiers: chr1:g.78383289T>C (hg19) ; chr1:g.77917604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917604T>C , CM000663.2:g.77917604T>C	GRCh38
NC_000001.10:g.78383289T>C , CM000663.1:g.78383289T>C	GRCh37
NC_000001.9:g.78155877T>C	NCBI36
NG_016625.1:g.34090T>C , LRG_442:g.34090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.66T>C MANE Select	ENSP00000333938.7:p.Tyr22=
ENST00000330010.12:c.28-356T>C	ENSP00000327363.8:n.28-356T>C
ENST00000334785.11:c.66T>C	ENSP00000333938.7:p.Tyr22=
ENST00000401035.7:c.28-356T>C	ENSP00000383814.3:n.28-356T>C
ENST00000440324.5:c.66T>C	ENSP00000411902.1:p.Tyr22=
NM_001172309.1:c.28-356T>C	NP_001165780.1:n.28-356T>C
NM_144573.3:c.66T>C , LRG_442t1:c.66T>C	NP_653174.3:p.Tyr22=
XM_005271322.2:c.66T>C	XP_005271379.1:p.Tyr22=
XM_005271323.2:c.66T>C	XP_005271380.1:p.Tyr22=
XM_005271324.3:c.28-356T>C	XP_005271381.1:n.28-356T>C
XM_005271325.2:c.66T>C	XP_005271382.1:p.Tyr22=
XM_005271326.2:c.28-356T>C	XP_005271383.1:n.28-356T>C
XM_005271327.2:c.66T>C	XP_005271384.1:p.Tyr22=
XM_005271322.4:c.66T>C	XP_005271379.1:p.Tyr22=
XM_005271323.4:c.66T>C	XP_005271380.1:p.Tyr22=
XM_005271324.5:c.28-356T>C	XP_005271381.1:n.28-356T>C
XM_005271325.4:c.66T>C	XP_005271382.1:p.Tyr22=
XM_005271326.4:c.28-356T>C	XP_005271383.1:n.28-356T>C
XM_005271327.4:c.66T>C	XP_005271384.1:p.Tyr22=
NM_001172309.2:c.28-356T>C	NP_001165780.1:n.28-356T>C
NM_144573.4:c.66T>C MANE Select	NP_653174.3:p.Tyr22=