Canonical Allele Identifier: CA340879434

Gene: NEXN

Linked Data

• dbSNP Id: rs1342442796
• gnomAD v4: 1-77936022-G-C
• MyVariant Identifiers: chr1:g.78401707G>C (hg19) ; chr1:g.77936022G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936022G>C , CM000663.2:g.77936022G>C	GRCh38
NC_000001.10:g.78401707G>C , CM000663.1:g.78401707G>C	GRCh37
NC_000001.9:g.78174295G>C	NCBI36
NG_016625.1:g.52508G>C , LRG_442:g.52508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1451G>C MANE Select	ENSP00000333938.7:p.Arg484Pro
ENST00000330010.12:c.1259G>C	ENSP00000327363.8:p.Arg420Pro
ENST00000334785.11:c.1451G>C	ENSP00000333938.7:p.Arg484Pro
ENST00000342754.5:c.1150G>C
ENST00000480732.2:n.1025G>C
NM_001172309.1:c.1259G>C	NP_001165780.1:p.Arg420Pro
NM_144573.3:c.1451G>C , LRG_442t1:c.1451G>C	NP_653174.3:p.Arg484Pro
XM_005271322.2:c.1451G>C	XP_005271379.1:p.Arg484Pro
XM_005271323.2:c.1409G>C	XP_005271380.1:p.Arg470Pro
XM_005271324.3:c.1259G>C	XP_005271381.1:p.Arg420Pro
XM_005271325.2:c.1251+2543G>C	XP_005271382.1:n.1251+2543G>C
XM_005271326.2:c.1217G>C	XP_005271383.1:p.Arg406Pro
XM_005271327.2:c.1034G>C	XP_005271384.1:p.Arg345Pro
XM_005271322.4:c.1451G>C	XP_005271379.1:p.Arg484Pro
XM_005271323.4:c.1409G>C	XP_005271380.1:p.Arg470Pro
XM_005271324.5:c.1259G>C	XP_005271381.1:p.Arg420Pro
XM_005271325.4:c.1251+2543G>C	XP_005271382.1:n.1251+2543G>C
XM_005271326.4:c.1217G>C	XP_005271383.1:p.Arg406Pro
XM_005271327.4:c.1034G>C	XP_005271384.1:p.Arg345Pro
NM_001172309.2:c.1259G>C	NP_001165780.1:p.Arg420Pro
NM_144573.4:c.1451G>C MANE Select	NP_653174.3:p.Arg484Pro