Canonical Allele Identifier: CA177484

Gene: NEXN

Linked Data

• ClinVar Variation Id: 164781
• ClinVar RCV Id: RCV000151558
• dbSNP Id: rs727503342
• MyVariant Identifiers: chr1:g.78383645A>C (hg19) ; chr1:g.77917960A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917960A>C , CM000663.2:g.77917960A>C	GRCh38
NC_000001.10:g.78383645A>C , CM000663.1:g.78383645A>C	GRCh37
NC_000001.9:g.78156233A>C	NCBI36
NG_016625.1:g.34446A>C , LRG_442:g.34446A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.220A>C MANE Select	ENSP00000333938.7:p.Ile74Leu
ENST00000330010.12:c.28A>C	ENSP00000327363.8:p.Ile10Leu
ENST00000334785.11:c.220A>C	ENSP00000333938.7:p.Ile74Leu
ENST00000401035.7:c.28A>C	ENSP00000383814.3:p.Ile10Leu
ENST00000440324.5:c.220A>C	ENSP00000411902.1:p.Ile74Leu
NM_001172309.1:c.28A>C	NP_001165780.1:p.Ile10Leu
NM_144573.3:c.220A>C , LRG_442t1:c.220A>C	NP_653174.3:p.Ile74Leu
XM_005271322.2:c.220A>C	XP_005271379.1:p.Ile74Leu
XM_005271323.2:c.220A>C	XP_005271380.1:p.Ile74Leu
XM_005271324.3:c.28A>C	XP_005271381.1:p.Ile10Leu
XM_005271325.2:c.220A>C	XP_005271382.1:p.Ile74Leu
XM_005271326.2:c.28A>C	XP_005271383.1:p.Ile10Leu
XM_005271327.2:c.220A>C	XP_005271384.1:p.Ile74Leu
XM_005271322.4:c.220A>C	XP_005271379.1:p.Ile74Leu
XM_005271323.4:c.220A>C	XP_005271380.1:p.Ile74Leu
XM_005271324.5:c.28A>C	XP_005271381.1:p.Ile10Leu
XM_005271325.4:c.220A>C	XP_005271382.1:p.Ile74Leu
XM_005271326.4:c.28A>C	XP_005271383.1:p.Ile10Leu
XM_005271327.4:c.220A>C	XP_005271384.1:p.Ile74Leu
NM_001172309.2:c.28A>C	NP_001165780.1:p.Ile10Leu
NM_144573.4:c.220A>C MANE Select	NP_653174.3:p.Ile74Leu