Canonical Allele Identifier: CA340879189

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1771542
• ClinVar RCV Id: RCV002396676
• MyVariant Identifiers: chr1:g.78401646C>T (hg19) ; chr1:g.77935961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935961C>T , CM000663.2:g.77935961C>T	GRCh38
NC_000001.10:g.78401646C>T , CM000663.1:g.78401646C>T	GRCh37
NC_000001.9:g.78174234C>T	NCBI36
NG_016625.1:g.52447C>T , LRG_442:g.52447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1390C>T MANE Select	ENSP00000333938.7:p.Gln464Ter
ENST00000330010.12:c.1198C>T	ENSP00000327363.8:p.Gln400Ter
ENST00000334785.11:c.1390C>T	ENSP00000333938.7:p.Gln464Ter
ENST00000342754.5:c.1089C>T
ENST00000464998.1:n.850C>T
ENST00000480732.2:n.964C>T
NM_001172309.1:c.1198C>T	NP_001165780.1:p.Gln400Ter
NM_144573.3:c.1390C>T , LRG_442t1:c.1390C>T	NP_653174.3:p.Gln464Ter
XM_005271322.2:c.1390C>T	XP_005271379.1:p.Gln464Ter
XM_005271323.2:c.1348C>T	XP_005271380.1:p.Gln450Ter
XM_005271324.3:c.1198C>T	XP_005271381.1:p.Gln400Ter
XM_005271325.2:c.1251+2482C>T	XP_005271382.1:n.1251+2482C>T
XM_005271326.2:c.1156C>T	XP_005271383.1:p.Gln386Ter
XM_005271327.2:c.973C>T	XP_005271384.1:p.Gln325Ter
XM_005271322.4:c.1390C>T	XP_005271379.1:p.Gln464Ter
XM_005271323.4:c.1348C>T	XP_005271380.1:p.Gln450Ter
XM_005271324.5:c.1198C>T	XP_005271381.1:p.Gln400Ter
XM_005271325.4:c.1251+2482C>T	XP_005271382.1:n.1251+2482C>T
XM_005271326.4:c.1156C>T	XP_005271383.1:p.Gln386Ter
XM_005271327.4:c.973C>T	XP_005271384.1:p.Gln325Ter
NM_001172309.2:c.1198C>T	NP_001165780.1:p.Gln400Ter
NM_144573.4:c.1390C>T MANE Select	NP_653174.3:p.Gln464Ter