Canonical Allele Identifier: CA340878311

Gene: NEXN

Linked Data

• gnomAD v4: 1-77935857-G-C
• MyVariant Identifiers: chr1:g.78401542G>C (hg19) ; chr1:g.77935857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77935857G>C , CM000663.2:g.77935857G>C	GRCh38
NC_000001.10:g.78401542G>C , CM000663.1:g.78401542G>C	GRCh37
NC_000001.9:g.78174130G>C	NCBI36
NG_016625.1:g.52343G>C , LRG_442:g.52343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1286G>C MANE Select	ENSP00000333938.7:p.Arg429Thr
ENST00000330010.12:c.1094G>C	ENSP00000327363.8:p.Arg365Thr
ENST00000334785.11:c.1286G>C	ENSP00000333938.7:p.Arg429Thr
ENST00000342754.5:c.985G>C
ENST00000440324.5:c.1244G>C	ENSP00000411902.1:p.Arg415Thr
ENST00000464998.1:n.746G>C
ENST00000480732.2:n.860G>C
NM_001172309.1:c.1094G>C	NP_001165780.1:p.Arg365Thr
NM_144573.3:c.1286G>C , LRG_442t1:c.1286G>C	NP_653174.3:p.Arg429Thr
XM_005271322.2:c.1286G>C	XP_005271379.1:p.Arg429Thr
XM_005271323.2:c.1244G>C	XP_005271380.1:p.Arg415Thr
XM_005271324.3:c.1094G>C	XP_005271381.1:p.Arg365Thr
XM_005271325.2:c.1251+2378G>C	XP_005271382.1:n.1251+2378G>C
XM_005271326.2:c.1052G>C	XP_005271383.1:p.Arg351Thr
XM_005271327.2:c.869G>C	XP_005271384.1:p.Arg290Thr
XM_005271322.4:c.1286G>C	XP_005271379.1:p.Arg429Thr
XM_005271323.4:c.1244G>C	XP_005271380.1:p.Arg415Thr
XM_005271324.5:c.1094G>C	XP_005271381.1:p.Arg365Thr
XM_005271325.4:c.1251+2378G>C	XP_005271382.1:n.1251+2378G>C
XM_005271326.4:c.1052G>C	XP_005271383.1:p.Arg351Thr
XM_005271327.4:c.869G>C	XP_005271384.1:p.Arg290Thr
NM_001172309.2:c.1094G>C	NP_001165780.1:p.Arg365Thr
NM_144573.4:c.1286G>C MANE Select	NP_653174.3:p.Arg429Thr