Canonical Allele Identifier: CA340883313

Gene: NEXN

Linked Data

• ClinVar Variation Id: 3229174
• ClinVar RCV Id: RCV004524753
• MyVariant Identifiers: chr1:g.78408459A>G (hg19) ; chr1:g.77942774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942774A>G , CM000663.2:g.77942774A>G	GRCh38
NC_000001.10:g.78408459A>G , CM000663.1:g.78408459A>G	GRCh37
NC_000001.9:g.78181047A>G	NCBI36
NG_016625.1:g.59260A>G , LRG_442:g.59260A>G
NG_033243.2:g.41320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1973A>G MANE Select	ENSP00000333938.7:p.Asn658Ser
ENST00000330010.12:c.1781A>G	ENSP00000327363.8:p.Asn594Ser
ENST00000334785.11:c.1973A>G	ENSP00000333938.7:p.Asn658Ser
ENST00000342754.5:c.1672A>G
ENST00000480732.2:n.1547A>G
NM_001172309.1:c.1781A>G	NP_001165780.1:p.Asn594Ser
NM_144573.3:c.1973A>G , LRG_442t1:c.1973A>G	NP_653174.3:p.Asn658Ser
XM_005271322.2:c.1973A>G	XP_005271379.1:p.Asn658Ser
XM_005271323.2:c.1931A>G	XP_005271380.1:p.Asn644Ser
XM_005271324.3:c.1781A>G	XP_005271381.1:p.Asn594Ser
XM_005271325.2:c.1751A>G	XP_005271382.1:p.Asn584Ser
XM_005271326.2:c.1739A>G	XP_005271383.1:p.Asn580Ser
XM_005271327.2:c.1556A>G	XP_005271384.1:p.Asn519Ser
XM_005271322.4:c.1973A>G	XP_005271379.1:p.Asn658Ser
XM_005271323.4:c.1931A>G	XP_005271380.1:p.Asn644Ser
XM_005271324.5:c.1781A>G	XP_005271381.1:p.Asn594Ser
XM_005271325.4:c.1751A>G	XP_005271382.1:p.Asn584Ser
XM_005271326.4:c.1739A>G	XP_005271383.1:p.Asn580Ser
XM_005271327.4:c.1556A>G	XP_005271384.1:p.Asn519Ser
NM_001172309.2:c.1781A>G	NP_001165780.1:p.Asn594Ser
NM_144573.4:c.1973A>G MANE Select	NP_653174.3:p.Asn658Ser