Canonical Allele Identifier: CA142137

Gene: NEXN

Linked Data

• ClinVar Variation Id: 47898
• ClinVar RCV Id: RCV000041168
• dbSNP Id: rs397517852
• MyVariant Identifiers: chr1:g.78408423C>A (hg19) ; chr1:g.77942738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942738C>A , CM000663.2:g.77942738C>A	GRCh38
NC_000001.10:g.78408423C>A , CM000663.1:g.78408423C>A	GRCh37
NC_000001.9:g.78181011C>A	NCBI36
NG_016625.1:g.59224C>A , LRG_442:g.59224C>A
NG_033243.2:g.41356G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1937C>A MANE Select	ENSP00000333938.7:p.Pro646Gln
ENST00000330010.12:c.1745C>A	ENSP00000327363.8:p.Pro582Gln
ENST00000334785.11:c.1937C>A	ENSP00000333938.7:p.Pro646Gln
ENST00000342754.5:c.1636C>A
ENST00000470735.1:n.776C>A
ENST00000480732.2:n.1511C>A
NM_001172309.1:c.1745C>A	NP_001165780.1:p.Pro582Gln
NM_144573.3:c.1937C>A , LRG_442t1:c.1937C>A	NP_653174.3:p.Pro646Gln
XM_005271322.2:c.1937C>A	XP_005271379.1:p.Pro646Gln
XM_005271323.2:c.1895C>A	XP_005271380.1:p.Pro632Gln
XM_005271324.3:c.1745C>A	XP_005271381.1:p.Pro582Gln
XM_005271325.2:c.1715C>A	XP_005271382.1:p.Pro572Gln
XM_005271326.2:c.1703C>A	XP_005271383.1:p.Pro568Gln
XM_005271327.2:c.1520C>A	XP_005271384.1:p.Pro507Gln
XM_005271322.4:c.1937C>A	XP_005271379.1:p.Pro646Gln
XM_005271323.4:c.1895C>A	XP_005271380.1:p.Pro632Gln
XM_005271324.5:c.1745C>A	XP_005271381.1:p.Pro582Gln
XM_005271325.4:c.1715C>A	XP_005271382.1:p.Pro572Gln
XM_005271326.4:c.1703C>A	XP_005271383.1:p.Pro568Gln
XM_005271327.4:c.1520C>A	XP_005271384.1:p.Pro507Gln
NM_001172309.2:c.1745C>A	NP_001165780.1:p.Pro582Gln
NM_144573.4:c.1937C>A MANE Select	NP_653174.3:p.Pro646Gln