Canonical Allele Identifier: CA335442

Gene: NEXN

Linked Data

• ClinVar Variation Id: 201934
• ClinVar RCV Id: RCV000701167 ; RCV000769824 ; RCV002390473
• dbSNP Id: rs727504658
• ExAC: 1:78401686 T / C
• gnomAD v2: 1-78401686-T-C
• gnomAD v3: 1-77936001-T-C
• gnomAD v4: 1-77936001-T-C
• MyVariant Identifiers: chr1:g.78401686T>C (hg19) ; chr1:g.77936001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936001T>C , CM000663.2:g.77936001T>C	GRCh38
NC_000001.10:g.78401686T>C , CM000663.1:g.78401686T>C	GRCh37
NC_000001.9:g.78174274T>C	NCBI36
NG_016625.1:g.52487T>C , LRG_442:g.52487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1430T>C MANE Select	ENSP00000333938.7:p.Ile477Thr
ENST00000330010.12:c.1238T>C	ENSP00000327363.8:p.Ile413Thr
ENST00000334785.11:c.1430T>C	ENSP00000333938.7:p.Ile477Thr
ENST00000342754.5:c.1129T>C
ENST00000480732.2:n.1004T>C
NM_001172309.1:c.1238T>C	NP_001165780.1:p.Ile413Thr
NM_144573.3:c.1430T>C , LRG_442t1:c.1430T>C	NP_653174.3:p.Ile477Thr
XM_005271322.2:c.1430T>C	XP_005271379.1:p.Ile477Thr
XM_005271323.2:c.1388T>C	XP_005271380.1:p.Ile463Thr
XM_005271324.3:c.1238T>C	XP_005271381.1:p.Ile413Thr
XM_005271325.2:c.1251+2522T>C	XP_005271382.1:n.1251+2522T>C
XM_005271326.2:c.1196T>C	XP_005271383.1:p.Ile399Thr
XM_005271327.2:c.1013T>C	XP_005271384.1:p.Ile338Thr
XM_005271322.4:c.1430T>C	XP_005271379.1:p.Ile477Thr
XM_005271323.4:c.1388T>C	XP_005271380.1:p.Ile463Thr
XM_005271324.5:c.1238T>C	XP_005271381.1:p.Ile413Thr
XM_005271325.4:c.1251+2522T>C	XP_005271382.1:n.1251+2522T>C
XM_005271326.4:c.1196T>C	XP_005271383.1:p.Ile399Thr
XM_005271327.4:c.1013T>C	XP_005271384.1:p.Ile338Thr
NM_001172309.2:c.1238T>C	NP_001165780.1:p.Ile413Thr
NM_144573.4:c.1430T>C MANE Select	NP_653174.3:p.Ile477Thr