Canonical Allele Identifier: CA919010

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1360466
• ClinVar RCV Id: RCV001904900
• dbSNP Id: rs754430866
• ExAC: 1:78408429 A / G
• gnomAD v2: 1-78408429-A-G
• gnomAD v4: 1-77942744-A-G
• MyVariant Identifiers: chr1:g.78408429A>G (hg19) ; chr1:g.77942744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942744A>G , CM000663.2:g.77942744A>G	GRCh38
NC_000001.10:g.78408429A>G , CM000663.1:g.78408429A>G	GRCh37
NC_000001.9:g.78181017A>G	NCBI36
NG_016625.1:g.59230A>G , LRG_442:g.59230A>G
NG_033243.2:g.41350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1943A>G MANE Select	ENSP00000333938.7:p.Asp648Gly
ENST00000330010.12:c.1751A>G	ENSP00000327363.8:p.Asp584Gly
ENST00000334785.11:c.1943A>G	ENSP00000333938.7:p.Asp648Gly
ENST00000342754.5:c.1642A>G
ENST00000470735.1:n.782A>G
ENST00000480732.2:n.1517A>G
NM_001172309.1:c.1751A>G	NP_001165780.1:p.Asp584Gly
NM_144573.3:c.1943A>G , LRG_442t1:c.1943A>G	NP_653174.3:p.Asp648Gly
XM_005271322.2:c.1943A>G	XP_005271379.1:p.Asp648Gly
XM_005271323.2:c.1901A>G	XP_005271380.1:p.Asp634Gly
XM_005271324.3:c.1751A>G	XP_005271381.1:p.Asp584Gly
XM_005271325.2:c.1721A>G	XP_005271382.1:p.Asp574Gly
XM_005271326.2:c.1709A>G	XP_005271383.1:p.Asp570Gly
XM_005271327.2:c.1526A>G	XP_005271384.1:p.Asp509Gly
XM_005271322.4:c.1943A>G	XP_005271379.1:p.Asp648Gly
XM_005271323.4:c.1901A>G	XP_005271380.1:p.Asp634Gly
XM_005271324.5:c.1751A>G	XP_005271381.1:p.Asp584Gly
XM_005271325.4:c.1721A>G	XP_005271382.1:p.Asp574Gly
XM_005271326.4:c.1709A>G	XP_005271383.1:p.Asp570Gly
XM_005271327.4:c.1526A>G	XP_005271384.1:p.Asp509Gly
NM_001172309.2:c.1751A>G	NP_001165780.1:p.Asp584Gly
NM_144573.4:c.1943A>G MANE Select	NP_653174.3:p.Asp648Gly