Canonical Allele Identifier: CA418572082

Gene: NEXN

Linked Data

• ClinVar Variation Id: 2940061
• ClinVar RCV Id: RCV003797419
• gnomAD v4: 1-77933372-T-C
• MyVariant Identifiers: chr1:g.78399057T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933372T>C , CM000663.2:g.77933372T>C	GRCh38
NC_000001.10:g.78399057T>C , CM000663.1:g.78399057T>C	GRCh37
NC_000001.9:g.78171645T>C	NCBI36
NG_016625.1:g.49858T>C , LRG_442:g.49858T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1144T>C MANE Select	ENSP00000333938.7:p.Leu382=
ENST00000330010.12:c.952T>C	ENSP00000327363.8:p.Leu318=
ENST00000334785.11:c.1144T>C	ENSP00000333938.7:p.Leu382=
ENST00000342754.5:c.843T>C
ENST00000401035.7:c.952T>C	ENSP00000383814.3:p.Leu318=
ENST00000440324.5:c.1102T>C	ENSP00000411902.1:p.Leu368=
ENST00000464998.1:n.604T>C
ENST00000480732.2:n.718T>C
NM_001172309.1:c.952T>C	NP_001165780.1:p.Leu318=
NM_144573.3:c.1144T>C , LRG_442t1:c.1144T>C	NP_653174.3:p.Leu382=
XM_005271322.2:c.1144T>C	XP_005271379.1:p.Leu382=
XM_005271323.2:c.1102T>C	XP_005271380.1:p.Leu368=
XM_005271324.3:c.952T>C	XP_005271381.1:p.Leu318=
XM_005271325.2:c.1144T>C	XP_005271382.1:p.Leu382=
XM_005271326.2:c.910T>C	XP_005271383.1:p.Leu304=
XM_005271327.2:c.727T>C	XP_005271384.1:p.Leu243=
XM_005271322.4:c.1144T>C	XP_005271379.1:p.Leu382=
XM_005271323.4:c.1102T>C	XP_005271380.1:p.Leu368=
XM_005271324.5:c.952T>C	XP_005271381.1:p.Leu318=
XM_005271325.4:c.1144T>C	XP_005271382.1:p.Leu382=
XM_005271326.4:c.910T>C	XP_005271383.1:p.Leu304=
XM_005271327.4:c.727T>C	XP_005271384.1:p.Leu243=
NM_001172309.2:c.952T>C	NP_001165780.1:p.Leu318=
NM_144573.4:c.1144T>C MANE Select	NP_653174.3:p.Leu382=