Canonical Allele Identifier: CA340883766

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1019679
• ClinVar RCV Id: RCV001319151
• dbSNP Id: rs1651500018
• gnomAD v4: 1-77942818-A-G
• MyVariant Identifiers: chr1:g.78408503A>G (hg19) ; chr1:g.77942818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942818A>G , CM000663.2:g.77942818A>G	GRCh38
NC_000001.10:g.78408503A>G , CM000663.1:g.78408503A>G	GRCh37
NC_000001.9:g.78181091A>G	NCBI36
NG_016625.1:g.59304A>G , LRG_442:g.59304A>G
NG_033243.2:g.41276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.2017A>G MANE Select	ENSP00000333938.7:p.Ser673Gly
ENST00000330010.12:c.1825A>G	ENSP00000327363.8:p.Ser609Gly
ENST00000334785.11:c.2017A>G	ENSP00000333938.7:p.Ser673Gly
ENST00000342754.5:c.1716A>G
ENST00000480732.2:n.1591A>G
NM_001172309.1:c.1825A>G	NP_001165780.1:p.Ser609Gly
NM_144573.3:c.2017A>G , LRG_442t1:c.2017A>G	NP_653174.3:p.Ser673Gly
XM_005271322.2:c.2017A>G	XP_005271379.1:p.Thr673Ala
XM_005271323.2:c.1975A>G	XP_005271380.1:p.Thr659Ala
XM_005271324.3:c.1825A>G	XP_005271381.1:p.Thr609Ala
XM_005271325.2:c.1795A>G	XP_005271382.1:p.Thr599Ala
XM_005271326.2:c.1783A>G	XP_005271383.1:p.Thr595Ala
XM_005271327.2:c.1600A>G	XP_005271384.1:p.Thr534Ala
XM_005271322.4:c.2017A>G	XP_005271379.1:p.Thr673Ala
XM_005271323.4:c.1975A>G	XP_005271380.1:p.Thr659Ala
XM_005271324.5:c.1825A>G	XP_005271381.1:p.Thr609Ala
XM_005271325.4:c.1795A>G	XP_005271382.1:p.Thr599Ala
XM_005271326.4:c.1783A>G	XP_005271383.1:p.Thr595Ala
XM_005271327.4:c.1600A>G	XP_005271384.1:p.Thr534Ala
NM_001172309.2:c.1825A>G	NP_001165780.1:p.Ser609Gly
NM_144573.4:c.2017A>G MANE Select	NP_653174.3:p.Ser673Gly