Canonical Allele Identifier: CA918853

Gene: NEXN

Linked Data

• dbSNP Id: rs773102085
• ExAC: 1:78401535 T / C
• gnomAD v2: 1-78401535-T-C
• gnomAD v4: 1-77935850-T-C
• MyVariant Identifiers: chr1:g.78401535T>C (hg19) ; chr1:g.77935850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935850T>C , CM000663.2:g.77935850T>C	GRCh38
NC_000001.10:g.78401535T>C , CM000663.1:g.78401535T>C	GRCh37
NC_000001.9:g.78174123T>C	NCBI36
NG_016625.1:g.52336T>C , LRG_442:g.52336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1279T>C MANE Select	ENSP00000333938.7:p.Leu427=
ENST00000330010.12:c.1087T>C	ENSP00000327363.8:p.Leu363=
ENST00000334785.11:c.1279T>C	ENSP00000333938.7:p.Leu427=
ENST00000342754.5:c.978T>C
ENST00000440324.5:c.1237T>C	ENSP00000411902.1:p.Leu413=
ENST00000464998.1:n.739T>C
ENST00000480732.2:n.853T>C
NM_001172309.1:c.1087T>C	NP_001165780.1:p.Leu363=
NM_144573.3:c.1279T>C , LRG_442t1:c.1279T>C	NP_653174.3:p.Leu427=
XM_005271322.2:c.1279T>C	XP_005271379.1:p.Leu427=
XM_005271323.2:c.1237T>C	XP_005271380.1:p.Leu413=
XM_005271324.3:c.1087T>C	XP_005271381.1:p.Leu363=
XM_005271325.2:c.1251+2371T>C	XP_005271382.1:n.1251+2371T>C
XM_005271326.2:c.1045T>C	XP_005271383.1:p.Leu349=
XM_005271327.2:c.862T>C	XP_005271384.1:p.Leu288=
XM_005271322.4:c.1279T>C	XP_005271379.1:p.Leu427=
XM_005271323.4:c.1237T>C	XP_005271380.1:p.Leu413=
XM_005271324.5:c.1087T>C	XP_005271381.1:p.Leu363=
XM_005271325.4:c.1251+2371T>C	XP_005271382.1:n.1251+2371T>C
XM_005271326.4:c.1045T>C	XP_005271383.1:p.Leu349=
XM_005271327.4:c.862T>C	XP_005271384.1:p.Leu288=
NM_001172309.2:c.1087T>C	NP_001165780.1:p.Leu363=
NM_144573.4:c.1279T>C MANE Select	NP_653174.3:p.Leu427=